Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G481S
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COL4A4

NM_000092.5:p.G481S

Associated Papers

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y et al.

Genes, 2022

36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases

Identification of COL4A4 variants in Chinese patients with familial hematuria.

Gao Y et al.

Frontiers in Genetics, 2022

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group.

Frascà GM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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."