Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G478E
Back to variants list

COL4A4

NM_000092.5:p.G478E

Associated Papers

Identification of COL4A4 variants in Chinese patients with familial hematuria.

Gao Y et al.

Frontiers in Genetics, 2022

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.

Wilson PC et al.

Kidney360, 2020

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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."