Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1086D
Back to variants list

COL4A5

NM_033380.3:p.G1086D

Associated Papers

[Unexpected phenotypes in Alport syndrome: the need for genetic testing].

Blázquez Gómez CJ et al.

Archivos Argentinos De Pediatria, 2022

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

Martin P et al.

Human Mutation, 2000

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."