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Article

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.

Asian journal of andrology - 1 Nov 2023

Xu Yang, Wang Jing, Liu Ji-Hai, Gao Qing-Qiang, Wang Bing, Xu Zhi-Peng

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare hereditary orphan condition that results in variable phenotypes, including infertility. About 50 gene variants are reported in the scientific literature to cause PCD, and among them, dynein axonemal assembly factor 4 ( DNAAF4 ) has been recently reported. DNAAF4 has been implicated in the preassembly of a multiunit dynein protein essential for the normal function of...

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PMID: 37147940
DOI: 10.4103/aja2022122
PMCID: PMC10715616

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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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