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Combined annotation‐dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer

Utility of combined annotation‐dependent depletion (CADD) score was recently reported to rank pathogenicity as C‐scores ranging 1‐99 for both confirmed deleterious mutation. Using C‐scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (V...

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Detalles Bibliográficos
Autores principales:	Nakagomi, Hiroshi, Mochizuki, Hitoshi, Inoue, Masayuki, Hirotsu, Yosuke, Amemiya, Kenji, Sakamoto, Ikuko, Nakagomi, Satoko, Kubota, Takeo, Omata, Masao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797818/ https://www.ncbi.nlm.nih.gov/pubmed/29215753 http://dx.doi.org/10.1111/cas.13464

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