Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G1325R
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COL4A4

NM_000092.5:p.G1325R

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

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M2

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-2.xlsx › M2

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Gibson JT et al.

Scientific Reports, 2022

35177655 (PubMed )
Supplement: 41598_2022_6525_MOESM1_ESM.docx
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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."