Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G875E
Back to variants list

COL4A5

NM_033380.3:p.G875E

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 comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Li H et al.

Frontiers in Genetics, 2025

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

Tazón-Vega B et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007

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."