Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1167S
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COL4A5

NM_033380.3:p.G1167S

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

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.

Beal F et al.

Journal of Nephrology, 2024

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

Zhang L et al.

Bmc Nephrology, 2020

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

Martin P et al.

Human Mutation, 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."