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Article

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

PloS one - 1 Jan 2023

Nagy Gregory, Diabate Mariame, Banerjee Tapahsama, Adamovich Aleksandra I, Smith Nahum, Jeon Hyeongseon, Dhar Shruti, Liu Wenfang, Burgess Katherine, Chung Dongjun, Starita Lea M, Parvin Jeffrey D

Abstract excerpt

Delineating functionally normal variants from functionally abnormal variants in tumor suppressor proteins is critical for cancer surveillance, prognosis, and treatment options. BRCA1 is a protein that has many variants of uncertain significance which are not yet classified as functionally normal or abnormal. In vitro functional assays can be used to identify the functional impact of a variant when the variant has...

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

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Identifiers

PMID: 37917606
DOI: 10.1371/journal.pone.0293422
PMCID: PMC10621863

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