Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.V741fs
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COL4A4

NM_000092.5:p.V741fs

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

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

de Araújo WC et al.

Bmc Genomics, 2025

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
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