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Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul DP; Ostrander, Elaine A.; Luben, Robert; Brown, Judith; Conroy, Don M.; Baynes, Caroline; Ahmed, Shahana (2017-11-01).
138:"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine"
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35:. PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by
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It was believed that protein-truncating variants are not associated with human diseases. Recent studies have implied the involvement of PTVs in
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Rivas, M. A.; Pirinen, M.; Conrad, D. F.; Lek, M.; Tsang, E. K.; Karczewski, K. J.; Maller, J. B.; Kukurba, K. R.; DeLuca, D. S. (2015-05-08).
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195:"Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks"
252:"Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. - PubMed - NCBI"
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Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Shaw, Katy; Phillips, Andrew D.; Cooper, David N. (January 2014).
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