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[Analysis of genetic variants in five pedigrees affected with Dysferlinopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Xia Yanjie, Shi Panlai, Hou Yaqin, Chen Duo, Dai Peng, Zhao Xinyu, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variants in five Chinese pedigrees affected with Dysferlinopathy. METHODS: Next generation sequencing (NGS) was carried out for the probands from the five pedigrees. Suspected variants were validated by Sanger sequencing. Pathogenicity of the variants was assessed based on the standards and guidelines by the American College of Medical Genetics and Genomics...

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PMID: 33751525
DOI: 10.3760/cma.j.cn511374-20200228-00112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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