The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus
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DOI: 10.3389/fgene.2022.884210
Abstract: The BRCA2 germline missense variant, R3052W, resides in the DNA binding domain and has been previously classified as a pathogenic allele. In this study, we sought to determine how R3052W alters the cellular functions of… read more here.
Keywords: brca2; variant; r3052w; homology directed ... See more keywords