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Article

Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria

27 Aug 2024

Abstract excerpt

Key Points Using transcriptome-wide association studies, we identified an association between splicing out of exon 27 of COL4A4 and hematuria. We confirmed the presence of COL4A4 exon 27 splicing in an independent cohort. Functional assays revealed that the COL4A4 transcript with exon 27 spliced out affects collagen IV trimer assembly and secretion. Background Hematuria is an established sign of glomerular...

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PMID: 39190490
DOI: 10.1681/asn.0000000000000480

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