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Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning

Many individuals tested for inherited cancer susceptibility at the BRCA1 gene locus are discovered to have variants of unknown clinical significance (UCVs). Most UCVs cause a single amino acid residue (missense) change in the BRCA1 protein. They can be biochemically assayed, but such evaluations are...

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Main Authors: Karchin, Rachel, Monteiro, Alvaro N. A, Tavtigian, Sean V, Carvalho, Marcelo A, Sali, Andrej
格式: Artigo
語言:Inglês
出版: Public Library of Science 2007
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1797820/
https://ncbi.nlm.nih.gov/pubmed/17305420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.0030026
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