Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1179R
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COL4A5

NM_033380.3:p.G1179R

Associated Papers

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

Zeng M et al.

Kidney International Reports, 2025

40630291 (PubMed )
Supplement: mmc1.pdf

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

Zhao X et al.

Molecular Genetics & Genomic Medicine, 2019

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Nagel M et al.

Human Mutation, 2005

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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."