Article

Population-scale genomics reveals divergent pathogenicity of variant classes across paralogous collagen IV genes

2026-06-15

Abstract excerpt

Monoallelic pathogenic or likely pathogenic variants in COL4A3 and COL4A4 occur in approximately 1 in 106 individuals, yet whether these paralogous genes confer equivalent pathogenicity for the same variant classes has not been tested at population scale. Using whole-genome sequencing data from the UK Biobank (UKB; n ≈ 500,000), with replication in the All of Us Research Program (n ≈ 414,000), we performed per-v...

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Literature Corpus work: f511305b-26ba-5923-8cd5-2b43b1519e0d
DOI: 10.64898/2026.06.12.26355529

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