Varaico: Literature-Extracted Genetic Variants

Gene:UPK3A
Variant:p.P273L
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UPK3A

NM_006953.4:p.P273L

Associated Papers

Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.

Schönfelder EM et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2006

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

Jenkins D et al.

Journal of the American Society of Nephrology : Jasn, 2005

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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."