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Functional analysis of clinical BARD1 germline variants

Germline pathogenic variants in BRCA1/2 account for one-third of familial breast cancers. The majority of BRCA1 function requires heterodimerization with BARD1. In contrast to BRCA1, BARD1 is a low-penetrance gene with an unclear clinical relevance, partly because of limited functional evidence. Usi...

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Detalles Bibliográficos
Autores principales: Toh, Ming Ren, Chong, Siao Ting, Chan, Sock Hoai, Low, Chen Ee, Ishak, Nur Diana Binte, Lim, Jing Quan, Courtney, Eliza, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672023/
https://www.ncbi.nlm.nih.gov/pubmed/31371347
http://dx.doi.org/10.1101/mcs.a004093