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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

INTRODUCTION: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional approaches have been proposed as a means to elucidate likely clinical signif...

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書誌詳細
主要な著者: Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Investigators, kConFab, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2246181/
https://ncbi.nlm.nih.gov/pubmed/18036263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/bcr1826
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