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Article

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in the Chinese Population and Its Implications for Clinical Practice.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 2026

Zeng Mengyao, Zhang Changming, Gao Xingjian, Zhang Jiahui, Jiang Song, Cao Yanan, Liu Zhi-Hong

Abstract excerpt

RATIONALE & OBJECTIVE: The α3α4α5 chain of type IV collagen, encoded by the COL4A3, COL4A4, and COL4A5 genes, is critical for the structural integrity and function of the glomerular basement membrane as well as ocular and auditory structures. This study estimated the prevalence of pathogenic variants of these 3 genes in the general Chinese population. STUDY DESIGN: Cross-sectional study. SETTING & PARTICIPANTS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42142611
DOI: 10.1053/j.ajkd.2026.03.039

Genes

COL4A3
COL4A5
COL4A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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