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Article

A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.

Asian journal of andrology - 1 Jan 2000

Dil Sobia, Khan Asad, Unar Ahsanullah, Yang Meng-Lei, Ali Imtiaz, Zeb Aurang, Zhang Huan, Zhou Jian-Teng, Zubair Muhammad, Khan Khalid, Bai Shun, Shi Qing-Hua

Abstract excerpt

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF...

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Identifiers

PMID: 36308074
DOI: 10.4103/aja202274
PMCID: PMC10226489

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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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