TY  - GEN 
AU  - Torrado Oubiña, Mario
AU  - Maneiro Pampín, Emilia
AU  - Lamounier, Arsonval
AU  - Fernández-Burriel, M.
AU  - Sánchez Giralt, S.
AU  - Martínez-Carapeto, A.
AU  - Cazón, L.
AU  - Santiago, E.
AU  - Ochoa, Juan Pablo
AU  - McKenna, W.J.
AU  - Santomé Collazo, Luís
AU  - Monserrat Iglesias, Lorenzo
PY  - 2022
SN  - 2045-2322
UR  - http://hdl.handle.net/20.500.11940/20521
AB  - The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband and...
LA  - eng
TI  - Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
DO  - 10.1038/s41598-022-11159-y
KW  - INIBIC
KW  - AS Coruña
KW  - CHUAC
VL  - 12
ER  -