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Article

Splicing Mutation in DNALI1 Causes Male Infertility with Severe Oligoasthenoteratozoospermia in Humans.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Jun 2024

Zhang Fengbin, Li Jingping, Liang Zhongyan, Chen Xiaopan, Zheng Huimei, Wu Jinggen, Chen Weikang, Li Lejun

Abstract excerpt

Oligo-astheno-teratozoospermia (OAT), which is a common cause of male infertility, can be caused by genetic factors. This study reports on a case of a male patient suffering from infertility concomitant with OAT. Whole-exome sequencing (WES) confirmed the presence of a homozygous variant (NM_003462: c.464-1G > A) in the DNALI1 gene via Sanger sequencing. Immunofluorescence staining demonstrated that the DNALI1...

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PMID: 38212584
DOI: 10.1007/s43032-023-01451-1

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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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