Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.D482G
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USP53

NM_001371395.1:p.D482G

Associated Papers

Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.

McKiernan P et al.

Jhep Reports : Innovation in Hepatology, 2024

38192535 (PubMed )
Supplement: mmc4.pdf

Expanding etiology of progressive familial intrahepatic cholestasis.

Henkel SA et al.

World Journal of Hepatology, 2019

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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."