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[Analysis of phenotype and MYH7 gene variant in a family of patients with hypertrophic cardiomyopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2022

Zhao Xueli, Wang Bo, Zhu Xiaoli, Yang Qianli, Liu Ying, Shao Hong, Zuo Lei, Luo Yun, Wang Yue, Liu Liwen

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and MYH7 gene variant in a Chinese pedigree affected with hypertrophic cardiomyopathy (HCM). METHODS: The proband was screened for variant of 96 cardiomyopathy-associated genes by exonic amplification and high-throughput sequencing. Candidate variant was verified by Sanger sequencing among 300 healthy controls as well as family members of the proband. Co-segregation...

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Identifiers

PMID: 35929939
DOI: 10.3760/cma.j.cn511374-20210317-00239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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