Varaico: Literature-Extracted Genetic Variants

Gene:USP7
Variant:p.G392D
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USP7

NM_003470.3:p.G392D

Associated Papers

Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulation.

Korchak EJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The C-terminal Tail of Ubiquitin-Specific Protease 7 Facilitates Ubiquitin Release and Ensures Efficient Catalytic Turnover.

Korchak EJ et al.

Journal of Molecular Biology, 2025

Activation dynamics of ubiquitin-specific protease 7.

Valles GJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme's Activity, Stability, and Allosteric Modulation.

Korchak EJ et al.

Biorxiv : the Preprint Server for Biology, 2025

The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.

Chen H et al.

Cell Reports, 2025

Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.

Wimmer MC et al.

Clinical Genetics, 2024

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."