Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1167R
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COL4A5

NM_033380.3:p.G1167R

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

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Liu JH et al.

Plos One, 2017

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2001

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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."