229:
2540:
1751:
2570:
2580:
2560:
2550:
376:
experiences a thromboembolic event that was unprovoked, continuing anticoagulation would be recommended. The choice of anticoagulant (warfarin versus a direct oral anticoagulant) is based on a number of different factors (the severity of thrombosis, patient preference, adherence to therapy, and potential drug and dietary interactions).
379:
Patients with the prothrombin G20210A mutation who have not had a thromboembolic event are generally not treated with routine anticoagulation. However, counseling the patient is recommended in situations with increased thrombotic risk is recommended (pregnancy, surgery, and acute illness). Oral
219:
for G20210A in adults that developed unprovoked VTE was disadvised, as was testing in asymptomatic family members related to G20210A carriers who developed VTE. In those who develop VTE, the results of thrombophilia tests (wherein the variant can be detected) rarely play a role in the length of
375:
Patients with the prothrombin mutation are treated similarly to those with other types of thrombophilia, with anticoagulation for at least three to six months. Continuing anticoagulation beyond three to six months depends on the circumstances surrounding thrombosis, for example, if the patient
180:, prothrombin G20210A is one of the most common genetic risk factors for venous thromboembolism (VTE). Increased production of prothrombin heightens the risk of blood clotting. Moreover, individuals who carry the mutation can pass it on to their offspring.
195:, or pulmonary embolism. Most individuals do not require treatment but do need to be cautious during periods when the possibility of blood clotting are increased; for example, during pregnancy, after surgery, or during long flights. Occasionally,
362:
Diagnosis of the prothrombin G20210A mutation is straightforward because the mutation involves a single base change (point mutation) that can be detected by genetic testing, which is unaffected by intercurrent illness or anticoagulant use.
1265:
214:
have an approximate 20-fold higher risk.A more recent and larger study in 2023, however, concluded that heterozygous carriers had a 5.23x-increased risk, and those with both factors a 6.35x risk. In a recommendation statement on VTE,
1101:"Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members"
86:. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year. Most people never develop a blood clot in their lifetimes.
366:
Measurement of an elevated plasma prothrombin level cannot be used to screen for the prothrombin G20210A mutation, because there is too great of an overlap between the upper limit of normal and levels in affected patients.
1242:
551:
Zivelin, Ariella; Mor-Cohen, Ronit; Kovalsky, Victoria; Kornbrot, Nurit; Conard, Jaqueline; Peyvandi, Flora; Kyrle, Paul A.; Bertina, Rogier; Peyvandi, Ferial; Emmerich, Joseph; Seligsohn, Uri (June 2006).
1266:
https://www.uptodate.com/contents/prothrombin-g20210a-mutation?search=prothrombin%20gene%20mutation&source=search_result&selectedTitle=1~103&usage_type=default&display_rank=1#H3703116740
703:
Ye Z, Liu EH, Higgins JP, Keavney BD, Lowe GD, Collins R, et al. (2006). "Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls".
1589:
1150:
664:"A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis"
404:; in either case, the names may appear with or without the accompanying G20210A location specifier (unhelpfully, since prothrombin mutations other than G20210A are known).
1085:
1327:
1046:"The risk of venous thromboembolism in oral contraceptive users: the role of genetic factors—a prospective cohort study of 240,000 women in the UK Biobank"
2069:
1614:
2410:
2009:
1736:
2309:
1594:
124:
carry the variant, while it is less common in other populations. It is estimated to have originated in
Caucasians about 24,000 years ago.
1255:
Kearon C, Akl EA, Ornelas J, et al. Antithrombotic
Therapy for VTE Disease: CHEST Guideline and Expert Panel Report. Chest 2016; 149:315.
1438:
1295:
553:
2445:
1787:
1609:
1403:
2563:
1264:
Bauer, K.A.(2018). Prothrombin G20210A mutation. In T.W. Post, P. Rutgeerts, & S. Grover (Eds.), UptoDate. Available from
2604:
2435:
1869:
90:
2415:
1695:
1363:
1100:
203:
2059:
554:"Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24 000 years ago"
2039:
1443:
2468:
1599:
1584:
339:
244:
2260:
2182:
2177:
2097:
1857:
1604:
1423:
188:
940:
Phillippe, Haley M.; Hornsby, Lori B.; Treadway, Sarah; Armstrong, Emily M.; Bellone, Jessica M. (June 2014).
2609:
2240:
2214:
380:
contraceptives should generally be avoided in women with the mutation as they increase the thrombotic risk.
1832:
1780:
1396:
306:
282:
2483:
2369:
2342:
2315:
2267:
2221:
1916:
1731:
1565:
1530:
1144:
1079:
472:
228:
2503:
2463:
2330:
2144:
2139:
2119:
2054:
1906:
1630:
1448:
184:
137:
79:
663:
2583:
2525:
2508:
2167:
1884:
1710:
1700:
1660:
1560:
1540:
1433:
1428:
680:
614:
Martinelli I, Bucciarelli P, Mannucci PM (2010). "Thrombotic risk factors: basic pathophysiology".
153:
2569:
2473:
2430:
2420:
2209:
2162:
2129:
2124:
1874:
1852:
1670:
1555:
1550:
1525:
1355:
1189:
1026:
977:
922:
867:
777:
728:
639:
589:
533:
149:
83:
46:
41:
Prothrombin thrombophilia, factor II mutation, prothrombin mutation, rs1799963, factor II G20210A
2543:
2425:
2395:
2374:
2337:
2320:
2235:
2199:
2189:
2084:
2004:
1948:
1911:
1896:
1837:
1804:
1773:
1754:
1685:
1675:
1665:
1499:
1389:
1347:
1306:
1224:
1181:
1120:
1067:
1045:
1018:
969:
961:
914:
906:
859:
818:
769:
720:
685:
631:
581:
573:
525:
145:
2245:
2230:
2107:
1982:
1938:
1715:
1690:
1339:
1216:
1173:
1112:
1099:
Evaluation of
Genomic Applications in Practice and Prevention (EGAPP) Working Group (2011).
1057:
1008:
953:
898:
849:
808:
759:
712:
675:
623:
565:
515:
294:
161:
17:
941:
2573:
2518:
2379:
2364:
2347:
2287:
2282:
2226:
2204:
1901:
1847:
1827:
1575:
216:
211:
196:
177:
114:
71:
2405:
2359:
2172:
2102:
1921:
1705:
1645:
1545:
813:
796:
420:
Provoked VTE is triggered by situations such as surgery, trauma, cancer, or immobility.
121:
716:
2598:
2488:
2277:
2272:
2134:
2074:
1977:
854:
837:
520:
503:
331:
261:
157:
75:
1359:
1207:
Degen SJ, Davie EW (1987). "Nucleotide sequence of the gene for human prothrombin".
1030:
871:
732:
643:
593:
537:
318:
2553:
2493:
2478:
2304:
2029:
1879:
1864:
1810:
1655:
1535:
1193:
1164:
Baglin T (2012). "Inherited and acquired risk factors for venous thromboembolism".
981:
926:
781:
430:
207:
192:
1013:
996:
886:
1116:
627:
140:), possibly due to increased pre-mRNA stability. Prothrombin is the precursor to
2352:
2297:
2194:
2049:
2024:
1842:
1635:
434:
389:
351:
335:
133:
110:
106:
51:
2440:
1311:
1062:
764:
747:
569:
2325:
2292:
2064:
2014:
1999:
1994:
1987:
1972:
1962:
1640:
1509:
1489:
1464:
256:
173:
1128:
965:
957:
910:
577:
2513:
2255:
2250:
2114:
2092:
1967:
1931:
393:
169:
165:
1351:
1185:
1177:
1124:
1071:
1022:
973:
918:
863:
822:
773:
724:
635:
585:
529:
1228:
689:
2019:
1796:
1680:
1650:
1494:
1484:
1412:
1343:
141:
1287:
1220:
74:
that provides a prompter coagulation response. It increases the risk of
2498:
1958:
1926:
1819:
347:
343:
313:
277:
249:
98:
94:
1504:
1479:
1300:
902:
301:
289:
227:
1044:
Lo Faro, Valeria, Johansson, Therese, and
Johansson, Åsa (2023).
997:"Venous thrombosis: the role of genes, environment, and behavior"
1769:
1385:
1474:
1469:
350:. The position is at or near where the pre-mRNA will have the
102:
748:"Mechanistic view of risk factors for venous thromboembolism"
429:
Specifically, position 20210 refers to the nucleotide on the
202:
A 2005 article concluded that heterozygous carriers who take
120:
Prothrombin G20210A was identified in the 1990s. About 2% of
206:
are at a 15-fold increased risk of VTE, while carriers also
1765:
1381:
885:
Stubbs, M J; Mouyis, Maria; Thomas, Mari (February 2018).
172:
further increase the risk five- to tenfold. Behind non-O
187:(DVT), which can cause pain and swelling, and sometimes
662:
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996).
1277:
396:, the mutation is also sometimes referred to as the
2456:
2394:
2155:
2083:
2038:
1947:
1818:
1803:
1724:
1623:
1574:
1518:
1457:
1281:
312:
300:
288:
276:
267:
255:
243:
238:
144:, which plays a key role in causing blood to clot (
57:
45:
37:
32:
497:
495:
493:
113:mutations that increase the risk of clots include
1149:: CS1 maint: DOI inactive as of September 2024 (
199:may be indicated to reduce the risk of clotting.
838:"Racial differences in venous thromboembolism"
746:Reitsma PH, Versteeg HH, Middeldorp S (2012).
681:10.1182/blood.V88.10.3698.bloodjournal88103698
183:The mutation increases the risk of developing
1781:
1397:
1050:American Journal of Obstetrics and Gynecology
609:
607:
605:
603:
148:). G20210A can thus contribute to a state of
8:
1326:Mannucci, P. M. & Franchini, M. (2015).
1084:: CS1 maint: multiple names: authors list (
433:downstream from the DNA that codes for the
2070:Reproductive endocrinology and infertility
1815:
1788:
1774:
1766:
1404:
1390:
1382:
1278:
1001:Hematology Am. Soc. Hematol. Educ. Program
160:showed only a 1.3-fold increased risk for
29:
2411:Bachelor of Medicine, Bachelor of Surgery
1061:
1012:
853:
812:
763:
679:
519:
467:
465:
463:
461:
459:
457:
455:
453:
1737:List of genetics research organizations
836:Zakai, NA; McClure, LA (October 2011).
657:
655:
653:
449:
413:
232:The classical blood coagulation pathway
1142:
1077:
502:Rosendaal FR, Reitsma PH (July 2009).
235:
1328:"Classic thrombophilic gene variants"
842:Journal of Thrombosis and Haemostasis
164:. Deficiencies in the anticoagulants
7:
2549:
2310:Physical medicine and rehabilitation
2559:
132:The variant causes elevated plasma
2446:Medical Scientist Training Program
814:10.1161/01.CIR.0000135582.53444.87
25:
330:The polymorphism is located in a
2578:
2568:
2558:
2548:
2539:
2538:
1750:
1749:
855:10.1111/j.1538-7836.2011.04443.x
521:10.1111/j.1538-7836.2009.03394.x
2579:
504:"Genetics of Venous Thrombosis"
2436:Doctor of Osteopathic Medicine
1870:Oral and maxillofacial surgery
1:
1014:10.1182/asheducation-2005.1.1
752:Arterioscler Thromb Vasc Biol
717:10.1016/S0140-6736(06)68263-9
342:nucleotide 20210), replacing
101:(A) at position 20210 of the
2416:Bachelor of Medical Sciences
2183:Neurosurgical anesthesiology
1696:Missing heritability problem
1117:10.1097/GIM.0b013e3181fbe46f
946:Journal of Pharmacy Practice
797:"Prothrombin 20210 mutation"
628:10.1097/CCM.0b013e3181c9cbd9
204:combined birth control pills
152:, but not particularly with
18:Prothrombin mutation G20210A
473:"Prothrombin thrombophilia"
2626:
1332:Thrombosis and Haemostasis
1166:Semin Respir Crit Care Med
1063:10.1016/j.ajog.2023.09.012
765:10.1161/ATVBAHA.111.242818
570:10.1182/blood-2005-12-5158
2534:
1745:
1419:
942:"Inherited Thrombophilia"
324:
272:
197:blood-thinning medication
2370:Transplantation medicine
2261:Clinical neurophysiology
2178:Obstetric anesthesiology
2098:Interventional radiology
1858:Digestive system surgery
958:10.1177/0897190014530390
437:(ATG, positions 1 to 3).
189:post-thrombotic syndrome
89:It is due to a specific
2241:Intensive care medicine
2215:Mass gathering medicine
2060:Maternal–fetal medicine
1119:(inactive 2024-09-18).
1833:Cardiothoracic surgery
1178:10.1055/s-0032-1311791
887:"Deep vein thrombosis"
340:3' untranslated region
233:
111:blood clotting pathway
2605:SNPs on chromosome 11
2484:Personalized medicine
2343:Reproductive medicine
2268:Occupational medicine
2222:Evolutionary medicine
1732:List of genetic codes
1056:(3): 360.e1–360.e13.
995:Rosendaal FR (2005).
795:Varga, E. A. (2004).
231:
97:(G) is changed to an
2504:Traditional medicine
2464:Alternative medicine
2331:Addiction psychiatry
2145:Transfusion medicine
2140:Medical microbiology
2055:Gynecologic oncology
1907:Reproductive surgery
1631:Behavioural genetics
1344:10.1160/th15-02-0141
1105:Genetics in Medicine
514:(Suppl 1): 301–304.
402:prothrombin mutation
185:deep vein thrombosis
138:hyperprothrombinemia
80:deep vein thrombosis
2526:History of medicine
2509:Veterinary medicine
2316:Preventive medicine
2168:Adolescent medicine
2010:Infectious diseases
1711:Population genomics
1701:Molecular evolution
1661:Genetic engineering
1221:10.1021/bi00393a033
154:arterial thrombosis
68:Prothrombin G20210A
33:Prothrombin G20210A
2474:Molecular oncology
2431:Doctor of Medicine
2421:Master of Medicine
2338:Radiation oncology
2210:Emergency medicine
2163:Addiction medicine
2130:Clinical chemistry
2125:Clinical pathology
1917:Transplant surgery
1875:Orthopedic surgery
1853:Colorectal surgery
1671:Genetic monitoring
1131:on 31 October 2021
508:J. Thromb. Haemost
398:factor II mutation
268:External databases
234:
150:hypercoagulability
128:Signs and symptoms
84:pulmonary embolism
2592:
2591:
2426:Master of Surgery
2390:
2389:
2375:Tropical medicine
2321:Prison healthcare
2236:Hospital medicine
2200:Disaster medicine
2190:Aviation medicine
2005:Hospital medicine
1912:Surgical oncology
1897:Pediatric surgery
1891:
1838:Endocrine surgery
1763:
1762:
1686:He Jiankui affair
1676:Genetic genealogy
1666:Genetic diversity
1595:the British Isles
1500:Genetic variation
1321:
1320:
622:(2 Suppl): S3–9.
564:(12): 4666–4668.
392:is also known as
328:
327:
146:blood coagulation
65:
64:
27:Medical condition
16:(Redirected from
2617:
2582:
2581:
2572:
2562:
2561:
2552:
2551:
2542:
2541:
2246:Medical genetics
2231:General practice
2108:Nuclear medicine
1983:Gastroenterology
1939:Vascular surgery
1889:
1816:
1790:
1783:
1776:
1767:
1753:
1752:
1716:Reverse genetics
1691:Medical genetics
1406:
1399:
1392:
1383:
1378:
1376:
1374:
1368:
1362:. Archived from
1279:
1268:
1262:
1256:
1253:
1247:
1246:
1239:
1233:
1232:
1204:
1198:
1197:
1161:
1155:
1154:
1148:
1140:
1138:
1136:
1127:. Archived from
1096:
1090:
1089:
1083:
1075:
1065:
1041:
1035:
1034:
1016:
992:
986:
985:
937:
931:
930:
903:10.1136/bmj.k351
882:
876:
875:
857:
833:
827:
826:
816:
792:
786:
785:
767:
743:
737:
736:
700:
694:
693:
683:
674:(10): 3698–703.
659:
648:
647:
611:
598:
597:
548:
542:
541:
523:
499:
488:
487:
485:
483:
469:
438:
427:
421:
418:
236:
162:coronary disease
30:
21:
2625:
2624:
2620:
2619:
2618:
2616:
2615:
2614:
2595:
2594:
2593:
2588:
2530:
2519:Chief physician
2452:
2397:
2386:
2380:Travel medicine
2365:Sports medicine
2348:Sexual medicine
2288:Palliative care
2283:Pain management
2227:Family medicine
2205:Diving medicine
2151:
2079:
2041:
2034:
1950:
1943:
1902:Plastic surgery
1848:General surgery
1828:Cardiac surgery
1809:
1807:
1799:
1794:
1764:
1759:
1741:
1720:
1619:
1610:the Middle East
1576:Archaeogenetics
1570:
1514:
1453:
1415:
1410:
1372:
1370:
1369:on 10 June 2016
1366:
1325:
1322:
1317:
1316:
1290:
1276:
1271:
1263:
1259:
1254:
1250:
1241:
1240:
1236:
1215:(19): 6165–77.
1206:
1205:
1201:
1163:
1162:
1158:
1141:
1134:
1132:
1098:
1097:
1093:
1076:
1043:
1042:
1038:
994:
993:
989:
939:
938:
934:
884:
883:
879:
848:(10): 1877–82.
835:
834:
830:
794:
793:
789:
745:
744:
740:
711:(9511): 651–8.
702:
701:
697:
661:
660:
651:
613:
612:
601:
550:
549:
545:
501:
500:
491:
481:
479:
471:
470:
451:
447:
442:
441:
428:
424:
419:
415:
410:
386:
373:
360:
226:
217:genetic testing
212:factor V Leiden
178:factor V Leiden
130:
115:factor V Leiden
78:including from
72:genotypic trait
61:2% (Caucasians)
28:
23:
22:
15:
12:
11:
5:
2623:
2621:
2613:
2612:
2610:Coagulopathies
2607:
2597:
2596:
2590:
2589:
2587:
2586:
2576:
2566:
2556:
2546:
2535:
2532:
2531:
2529:
2528:
2523:
2522:
2521:
2511:
2506:
2501:
2496:
2491:
2486:
2481:
2476:
2471:
2466:
2460:
2458:
2457:Related topics
2454:
2453:
2451:
2450:
2449:
2448:
2438:
2433:
2428:
2423:
2418:
2413:
2408:
2406:Medical school
2402:
2400:
2392:
2391:
2388:
2387:
2385:
2384:
2383:
2382:
2372:
2367:
2362:
2360:Sleep medicine
2357:
2356:
2355:
2345:
2340:
2335:
2334:
2333:
2323:
2318:
2313:
2307:
2302:
2301:
2300:
2290:
2285:
2280:
2275:
2270:
2265:
2264:
2263:
2253:
2248:
2243:
2238:
2233:
2224:
2219:
2218:
2217:
2207:
2202:
2197:
2192:
2187:
2186:
2185:
2180:
2173:Anesthesiology
2170:
2165:
2159:
2157:
2153:
2152:
2150:
2149:
2148:
2147:
2142:
2137:
2132:
2127:
2122:
2112:
2111:
2110:
2105:
2103:Neuroradiology
2100:
2089:
2087:
2081:
2080:
2078:
2077:
2072:
2067:
2062:
2057:
2052:
2046:
2044:
2040:Obstetrics and
2036:
2035:
2033:
2032:
2027:
2022:
2017:
2012:
2007:
2002:
1997:
1992:
1991:
1990:
1980:
1975:
1970:
1965:
1955:
1953:
1945:
1944:
1942:
1941:
1936:
1935:
1934:
1924:
1922:Trauma surgery
1919:
1914:
1909:
1904:
1899:
1894:
1893:
1892:
1885:Otolaryngology
1882:
1877:
1872:
1867:
1862:
1861:
1860:
1855:
1845:
1840:
1835:
1830:
1824:
1822:
1813:
1811:subspecialties
1801:
1800:
1795:
1793:
1792:
1785:
1778:
1770:
1761:
1760:
1758:
1757:
1746:
1743:
1742:
1740:
1739:
1734:
1728:
1726:
1722:
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1713:
1708:
1706:Plant genetics
1703:
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1678:
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1668:
1663:
1658:
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1646:Genome editing
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1625:
1624:Related topics
1621:
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1546:Immunogenetics
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1458:Key components
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1420:
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1380:
1379:
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1319:
1318:
1315:
1314:
1303:
1291:
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1285:
1283:
1282:Classification
1275:
1274:External links
1272:
1270:
1269:
1257:
1248:
1234:
1199:
1156:
1091:
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239:SNP: rs1799963
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2469:Allied health
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2056:
2053:
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2026:
2023:
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2018:
2016:
2013:
2011:
2008:
2006:
2003:
2001:
1998:
1996:
1993:
1989:
1986:
1985:
1984:
1981:
1979:
1978:Endocrinology
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283:Human SNPView
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2479:Nanomedicine
2030:Rheumatology
1961: /
1880:Hand surgery
1865:Neurosurgery
1656:Genetic code
1590:the Americas
1566:Quantitative
1536:Cytogenetics
1531:Conservation
1424:Introduction
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1364:the original
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1129:the original
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2195:Dermatology
2050:Gynaecology
2042:gynaecology
2025:Pulmonology
1843:Eye surgery
1805:Specialties
1636:Epigenetics
1301:176930#0009
1135:27 February
1007:(1): 1–12.
801:Circulation
477:MedlinePlus
435:start codon
390:prothrombin
384:Terminology
352:poly-A tail
336:prothrombin
220:treatment.
134:prothrombin
107:prothrombin
93:in which a
76:blood clots
52:Blood clots
38:Other names
2599:Categories
2326:Psychiatry
2312:(PM&R)
2305:Phlebology
2293:Pediatrics
2120:Anatomical
2085:Diagnostic
2065:Obstetrics
2015:Nephrology
2000:Hematology
1995:Geriatrics
1988:Hepatology
1973:Cardiology
1963:Immunology
1641:Geneticist
1615:South Asia
1561:Population
1541:Ecological
1510:Amino acid
1490:Nucleotide
1465:Chromosome
1307:DiseasesDB
1243:"UpToDate"
844:(Review).
445:References
354:attached.
257:Chromosome
174:blood type
122:Caucasians
2514:Physician
2398:education
2256:Neurology
2251:Narcology
2115:Pathology
2093:Radiology
1968:Angiology
1932:Andrology
1556:Molecular
1551:Microbial
1526:Classical
966:0897-1900
911:0959-8138
578:0006-4971
394:factor II
371:Treatment
358:Diagnosis
332:noncoding
170:Protein S
166:Protein C
156:. A 2006
82:, and of
58:Frequency
2544:Category
2020:Oncology
1951:medicine
1949:Internal
1797:Medicine
1755:Category
1681:Heredity
1651:Genomics
1495:Mutation
1485:Heredity
1449:Glossary
1439:Timeline
1413:Genetics
1367:(review)
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530:19630821
482:12 March
388:Because
142:thrombin
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47:Symptoms
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2499:Therapy
2396:Medical
1959:Allergy
1927:Urology
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348:adenine
344:guanine
319:1799963
314:SNPedia
307:1799963
295:1799963
278:Ensembl
105:of the
99:adenine
95:guanine
2574:Portal
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778:S2CID
729:S2CID
668:Blood
640:S2CID
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558:Blood
534:S2CID
408:Notes
346:with
290:dbSNP
224:Cause
210:with
70:is a
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1348:PMID
1296:OMIM
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1121:PMID
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168:and
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