Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G1334E
Back to variants list

COL4A4

NM_000092.5:p.G1334E

Associated Papers

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J et al.

Plos One, 2016

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.

Haas M

Archives of Pathology & Laboratory Medicine, 2009

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.

Voskarides K et al.

Journal of the American Society of Nephrology : Jasn, 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."