Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G944R
Back to variants list

COL4A5

NM_033380.3:p.G944R

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

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

Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

Di H et al.

Journal of Medical Genetics, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."