Genetic, functional, and histopathological evaluation of two C‐terminal BRCA1 missense variants

BACKGROUND: The vast majority of BRCA1 missense sequence variants remain uncharacterised for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity. BRCA1 plays diverse cellular roles and it is unlikely that any single functional assa...

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Библиографические подробности
Главные авторы: Lovelock, P K, Healey, S, Au, W, Sum, E Y M, Tesoriero, A, Wong, E M, Hinson, S, Brinkworth, R, Bekessy, A, Diez, O, Izatt, L, Solomon, E, Jenkins, M, Renard, H, Hopper, J, Waring, P, Investigators, kConFab, Tavtigian, S V, Goldgar, D, Lindeman, G J, Visvader, J E, Couch, F J, Henderson, B R, Southey, M, Chenevix‐Trench, G, Spurdle, A B, Brown, M A
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 2006
Предметы:
Letter to JMG
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564506/
https://ncbi.nlm.nih.gov/pubmed/15923272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033258
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