Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.P242L
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USP53

NM_001371395.1:p.P242L

Associated Papers

Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.

Wendrich K et al.

Nature Chemical Biology, 2025

39587316 (PubMed )
Supplement: 41589_2024_1777_MOESM1_ESM.pdf

The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.

Ahn S et al.

Yonsei Medical Journal, 2023

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.

Kanwal A et al.

Genes, 2023

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.

Shatokhina O et al.

Genes, 2021

Cholestasis Due to USP53 Deficiency.

Bull LN et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children.

Samanta A et al.

Journal of Clinical and Experimental Hepatology, 0

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