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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...
Autores principales: | Karchin, Rachel, Monteiro, Alvaro N. A, Tavtigian, Sean V, Carvalho, Marcelo A, Sali, Andrej |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2007
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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 |
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