Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G957E
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COL4A4

NM_000092.5:p.G957E

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

Benign familial hematuria associated with a novel COL4A4 mutation.

Ozen S et al.

Pediatric Nephrology (berlin, Germany), 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."