"vaRHC: an R package for semi-automation of variant classification in ..."

Elisabet Munté et al. (2023)

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DOI: 10.1093/BIOINFORMATICS/BTAD128

access: open

type: Journal Article

metadata version: 2025-10-28

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Elisabet Munté, Lidia Feliubadaló, Marta Pineda, Eva Tornero, Maribel González, José Marcos Moreno-Cabrera, Carla Roca, Joan Bales Rubio, Laura Arnaldo, Gabriel Capellá, Jose Luis Mosquera, Conxi Lázaro:
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines. Bioinform. 39(3) (2023)

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