Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G319R
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COL4A5

NM_033380.3:p.G319R

Associated Papers

Mutational analysis of COL4A5 gene in Korean Alport syndrome.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2000

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R et al.

American Journal of Human Genetics, 1998

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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."