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Article

Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.

Reproductive biology and endocrinology : RB&E - 1 Mar 2022

Xu Chuan, Tang Dongdong, Shao Zhongmei, Geng Hao, Gao Yang, Li Kuokuo, Tan Qing, Wang Guanxiong, Wang Chao, Wu Huan, Li Guanjian, Lv Mingrong, He Xiaojin, Cao Yunxia

Abstract excerpt

BACKGROUND: Multiple morphological abnormalities of the sperm flagella (MMAF) is a subtype of severe asthenoteratozoospermia with poorly understood genetic etiology. SPAG6 is a core axonemal component that plays a critical role in the formation of cilia and sperm flagella. Previous studies have reported that mutations in SPAG6 cause primary ciliary dyskinesia (PCD), but the association between SPAG6 gene variants...

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Identifiers

PMID: 35232447
DOI: 10.1186/s12958-022-00916-3
PMCID: PMC8886842

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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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