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The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus

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 BRCA2 in the DNA damage response. The BRCA2 R3052W mutated protein exacerbates g...

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I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Judit Jimenez-Sainz, Adam Krysztofiak, Jennifer Garbarino, Faye Rogers, Ryan B. Jensen
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2022-05-01
Rangatū:Frontiers in Genetics
Ngā marau:
Urunga tuihono:https://www.frontiersin.org/articles/10.3389/fgene.2022.884210/full
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