Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G380D
Back to variants list

COL4A5

NM_033380.3:p.G380D

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

King K et al.

Human Mutation, 2006

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."