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Article

A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.

Human reproduction (Oxford, England) - 20 Apr 2021

Li Yang, Wu Yufan, Zhou Jianteng, Zhang Huan, Zhang Yuanwei, Ma Hui, Jiang Xiaohua, Shi Qinghua

Abstract excerpt

STUDY QUESTION: Are mutations in the zinc finger SWIM domain-containing protein 7 gene (ZSWIM7) associated with human male infertility? SUMMARY ANSWER: The homozygous frameshift mutation (c.231_232del) in ZSWIM7 causes decreased meiotic recombination, spermatogenesis arrest, and infertility in men. WHAT IS KNOWN ALREADY: ZSWIM7 is a SWIM domain-containing Shu2/SWS1 protein family member and a subunit of the Shu...

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PMID: 33713115
DOI: 10.1093/humrep/deab046

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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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