Novel LVNC genetic aetiology discovered by an original whole-exome sequencing data combinatory filtering method

Background: Left ventricular non-compaction (LVNC) is a cardiomyopathy characterized by deep intra-trabecular recesses and prominent left ventricular trabeculae. This cardiomyopathy has remarkable phenotypic and genetic heterogeneity. Its molecular diagnosis via next generation sequencing is challen...

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Detalles Bibliográficos
Autores Principales: Gallo Bernal, S, Carlosama, C., Medina, H., Contreras, J., Cabrera, R., Forero, J.F., Huertas Quiñones, Víctor Manuel, Torres, A., Laissue, P.
Formato: Objeto de conferencia (Conference Object)
Lenguaje:Inglés (English)
Publicado: Cambridge University Press 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/26458
https://doi.org/10.1017/s1047951119000489