Varaico: Literature-Extracted Genetic Variants

Gene:USP27X
Variant:p.F313V
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USP27X

NM_001145073.3:p.F313V

Associated Papers

A novel USP27X missense variant identified in an individual with intellectual disability.

Luo S et al.

Journal of Human Genetics, 2025

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay.

Koch I et al.

Journal of Visualized Experiments : Jove, 2024

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Koch I et al.

Life Science Alliance, 2024

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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."