Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1027V
Back to variants list

COL4A5

NM_033380.3:p.G1027V

Associated Papers

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Zhang X et al.

Orphanet Journal of Rare Diseases, 2018

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

Wang F et al.

Kidney International, 2005

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."