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Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity

The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign a clinical risk. In this paper, whole exome s...

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Detalles Bibliográficos
Autores principales: Adamovich, Aleksandra I., Banerjee, Tapahsama, Wingo, Margaret, Duncan, Kathryn, Ning, Jie, Martins Rodrigues, Fernanda, Huang, Kuan-lin, Lee, Cindy, Chen, Feng, Ding, Li, Parvin, Jeffrey D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457558/
https://www.ncbi.nlm.nih.gov/pubmed/30925164
http://dx.doi.org/10.1371/journal.pgen.1008049