Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.P1461T
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COL4A3

NM_000091.5:p.P1461T

Associated Papers

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.

Chen D et al.

Molecular Genetics & Genomic Medicine, 2025

39924725 (PubMed )
Supplement: MGG3-13-e70053-s002.xlsx › Sheet1

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 › M3

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 › M3
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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."