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[Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Hong Chenliang, Ding Xianhong, Lu Yang, Zhu Jia, Wang Jinwei, Xu Mengyi, Chen Shuaishuai, Shen Bo, Ge Weili

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected with Hypertrophic cardiomyopathy (HCM) due to a truncating variant of ALPK3 gene. METHODS: A 44-year-old male admitted to Taizhou Hospital of Zhejiang Province on December 29, 2018 was selected as the study subject. Whole-exome sequencing (WES) was carried out, and candidate variant was interpreted by following the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41645375
DOI: 10.3760/cma.j.cn511374-20241118-00598

Genes

ALPK3

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