Výsledky vyhledávání - "Sheila A. Goff"

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Autor: Sunil R. Lakhani, Melissa A. Brown, Samantha Butler, Feng Lin, Diana Eccles, Amanda B. Spurdle, Bryony A. Thompson, David E. Goldgar, Sue Healey, Phillip J. Whiley, Leonard Da Silva, Logan C. Walker, Sheila A. Goff, Fergus J. Couch, Daniel J. Farrugia, Sean V. Tavtigian

Publikováno v: Human Mutation. 31:E1484-E1505

Missense substitutions in high-risk cancer susceptibility genes create clinical uncertainty in the genetic counseling process. Multifactorial likelihood classification approaches and in vitro assays are useful for the classification of exonic sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60374f1584f2a4e701a3c256abf08c6
https://doi.org/10.1002/humu.21267

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