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Article

A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.

Journal of assisted reproduction and genetics - 1 Oct 2023

Yao Liangyu, Ge Yifeng, Du Tian, Chen Tong, Ma Jinzhao, Song Ninghong

Abstract excerpt

PURPOSE: Non-obstructive azoospermia (NOA) is an essential cause of male infertility for which treatment options are limited. The pathogenic mechanism of NOA, especially idiopathic NOA, remains unclear. Gene variations are associated with the occurrence of NOA. Our study was performed to investigate the genetic causes of NOA. METHODS: Whole exome sequencing (WES) was performed in two probands diagnosed with NOA...

Topics

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Azoospermia
Infertility, Male
Meiosis
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37574498
DOI: 10.1007/s10815-023-02907-8
PMCID: PMC10504198

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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