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Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

Next-generation sequencing of Sri Lankan families with inherited cancer syndromes resulted in the identification of five BRCA2 variants of unknown clinical significance. Interpreting such variants poses significant challenges for both clinicians and patients. Using a mouse embryonic stem cell-based...

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Detalles Bibliográficos
Autores principales:	Sirisena, Nirmala, Biswas, Kajal, Sullivan, Teresa, Stauffer, Stacey, Cleveland, Linda, Southon, Eileen, Dissanayake, Vajira H. W., Sharan, Shyam K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216543/ https://www.ncbi.nlm.nih.gov/pubmed/32393398 http://dx.doi.org/10.1186/s13058-020-01272-z

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