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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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Detalles Bibliográficos
Autores principales: Karchin, Rachel, Monteiro, Alvaro N. A, Tavtigian, Sean V, Carvalho, Marcelo A, Sali, Andrej
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797820/
https://www.ncbi.nlm.nih.gov/pubmed/17305420
http://dx.doi.org/10.1371/journal.pcbi.0030026