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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A4

Variant:p.G484V

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COL4A4

NM_000092.5:p.G484V

hg38:chr2:227089876 C>A

Associated Papers

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.

Krüger BM et al.

Kidney International Reports, 2025

40485705 (PubMed )

Supplement: mmc1.pdf

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