A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed association of this gene with different forms of a...

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Detalhes bibliográficos

Principais autores:	Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-03-01
Colecção:	Molecular Genetics and Metabolism Reports
Assuntos:	FLNC Cardiomyopathy Dilated Recessive
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426923000733
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