Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.C228R
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USP53

NM_001371395.1:p.C228R

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

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

Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.

Kanwal A et al.

Bmc Psychiatry, 2022

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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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."