Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms

Abstract Background FLNC gene variants have predominantly been reported in adult populations with cardiomyopathies, and early-onset cases are less common. The genotype–phenotype relationship indicates that dilated cardiomyopathy (DCM) is often associated with FLNC truncating variants. Methods We con...

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Detalles Bibliográficos

Autores principales:	Rui Dong, Xin Zhou, Haiyan Zhang, Bingyi Shi, Guohua Liu, Yi Liu
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2024-10-01
Colección:	Human Genomics
Materias:	FLNC variant Cardiomyopathies Early-onset Splicing defects
Acceso en línea:	https://doi.org/10.1186/s40246-024-00683-9
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