Classifying Variants of Undetermined Significance in BRCA2 with Protein Likelihood Ratios

BACKGROUND: Missense (aminoacid changing) variants found in cancer predisposition genes often create difficulties when clinically interpreting genetic testing results. Although bioinformatics has developed approaches to predicting the impact of these variants, many of these approaches have not been...

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Bibliografiske detaljer
Main Authors: Karchin, Rachel, Agarwal, Mukesh, Sali, Andrej, Couch, Fergus, Beattie, Mary S.
Format: Artigo
Sprog:Inglês
Udgivet: Libertas Academica 2008
Fag:
Original Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2587343/
https://ncbi.nlm.nih.gov/pubmed/19043619
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