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Métodos para la evaluación económica de programas de cribado neonatal. 

[ES] Los programas de cribado neonatal son una herramienta fun-damental para la prevención secundaria o detección presintomáti-ca de determinadas afecciones. La implantación de un programa de cribado neonatal requiere necesariamente de una evaluación de su efectividad, seguridad, coste-efe...

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer 

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition ge...