Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G1427delFs
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COL4A3

NM_000091.5:p.G1427delFs

Associated Papers

Genetic study of Alport syndrome in Tunisia.

Younsi ME et al.

Pediatric Nephrology (berlin, Germany), 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."