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[Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Ren Huijun, Ma Xiaohan, Peng Ruoyu, Li Xingwu, Ming Liang

Abstract excerpt

OBJECTIVE: To explore the molecular basis for two brothers affected with globozoospermia. METHODS: Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR). RESULTS: Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two...

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Identifiers

PMID: 32219831
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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