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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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2024-03-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2214426923000733 |
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