Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, and it has obvious genetic and clinical heterogeneity. Recently, heterozygous ALPK3 truncating variants (ALPK3tv) have been shown to cause HCM. However, the spectrum of ALPK3 variants and their relationships...

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Bibliografische gegevens

Hoofdauteurs:	Jing Wang, Fang Wang, Guixin Wu, Minjie Lu, Channa Zhang, Lei Song, Yibing Shao, Jizheng Wang, Fusong Liu, Mei Zhang
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Elsevier 2024-06-01
Reeks:	Heliyon
Onderwerpen:	Hypertrophic cardiomyopathy ALPK3 Truncating variant Missense variant
Online toegang:	http://www.sciencedirect.com/science/article/pii/S2405844024088170
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