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Article

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

PLoS genetics - 1 Aug 2023

Diabate Mariame, Islam Muhtadi M, Nagy Gregory, Banerjee Tapahsama, Dhar Shruti, Smith Nahum, Adamovich Aleksandra I, Starita Lea M, Parvin Jeffrey D

Abstract excerpt

Single nucleotide variants are the most frequent type of sequence changes detected in the genome and these are frequently variants of uncertain significance (VUS). VUS are changes in DNA for which disease risk association is unknown. Thus, methods that classify the functional impact of a VUS can be used as evidence for variant interpretation. In the case of the breast and ovarian cancer specific tumor suppressor...

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Share to BRCA1 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Breaks, Double-Stranded

Share to Mutation, Missense

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Identifiers

PMID: 37578980
DOI: 10.1371/journal.pgen.1010739
PMCID: PMC10449183

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