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Article

A novel splicing variant in DNAH8 causes asthenozoospermia.

Journal of assisted reproduction and genetics - 1 Jun 2021

Zhou Zhou, Mao Xiaoyan, Chen Biaobang, Mu Jian, Wang Wenjing, Li Bin, Yan Zheng, Dong Jie, Li Qiaoli, Kuang Yanping, Wang Lei, Wu Ling, Sang Qing

Abstract excerpt

PURPOSE: To identify the genetic factors responsible for asthenozoospermia, which is a major cause of male infertility characterized by immotile and malformed spermatozoa. METHODS: Whole-exome sequencing was performed in two brothers from a family with asthenozoospermia to identify pathogenic variants. The functional effect of the identified variant was investigated in HEK293T cells using a minigene assay....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33611675
DOI: 10.1007/s10815-021-02116-1
PMCID: PMC8266938

Provenance

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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