Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G139R
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COL4A3

NM_000091.5:p.G139R

Associated Papers

High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.

Koľvek G et al.

Biomedicines, 2025

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )
Supplement: 10020_2025_1262_MOESM1_ESM.docx

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.

Plevova P et al.

Frontiers in Medicine, 2023

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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."