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A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.

Reproductive biomedicine online - 1 Nov 2021

Khan Ihsan, Dil Sobia, Zhang Huan, Zhang Beibei, Khan Teka, Zeb Aurang, Zhou Jianteng, Nawaz Shoaib, Zubair Muhammad, Khan Khalid, Ma Hui, Shi Qinghua

Abstract excerpt

RESEARCH QUESTION: Male infertility is a global issue worldwide and multiple morphological abnormalities of the sperm flagella (MMAF) is one of the most severe forms of the qualitative sperm defects with a heterogeneous genetic cause that has not been completely understood. Can whole-exome sequencing (WES) reveal novel genetic causes contributing to MMAF in a consanguineous Pakistani family, comprising three...

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Consanguinity
Infertility, Male
Microscopy, Electron, Transmission
Pakistan
Semen Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spermatogenesis

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PMID: 34493464
DOI: 10.1016/j.rbmo.2021.07.021

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

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