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Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). Most functional studies of missense variants in BRCA1 focus on variants loca...

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Detalles Bibliográficos
Autores principales: Hovland, Henrikke Nilsen, Mchaina, Eunice Kabanyana, Høberg-Vetti, Hildegunn, Ariansen, Sarah Louise, Sjursen, Wenche, Van Ghelue, Marijke, Haukanes, Bjørn Ivar, Knappskog, Per Morten, Aukrust, Ingvild, Ognedal, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957003/
https://www.ncbi.nlm.nih.gov/pubmed/36833189
http://dx.doi.org/10.3390/genes14020262