Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.L933F
Back to variants list

COL4A5

NM_033380.3:p.L933F

Associated Papers

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

Zhang L et al.

Bmc Nephrology, 2020

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Ashton EJ et al.

European Journal of Human Genetics : Ejhg, 2008

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."