Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G709E
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COL4A3

NM_000091.5:p.G709E

Associated Papers

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.

Lim TST et al.

Scientific Reports, 2025

Mutational analysis of COL4A5 gene in Korean Alport syndrome.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2000

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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."