Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1161E
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COL4A5

NM_033380.3:p.G1161E

Associated Papers

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.

Krüger BM et al.

Kidney International Reports, 2025

40485705 (PubMed )
Supplement: mmc1.pdf

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

Schrezenmeier E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.

Chatterjee R et al.

Plos One, 2013

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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."