Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G469*
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COL4A4

NM_000092.5:p.G469*

Associated Papers

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Huang Y et al.

Renal Failure, 2025

41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Nagel M et al.

Human Mutation, 2005

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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."