Varaico: Literature-Extracted Genetic Variants

Gene:USP8
Variant:p.Y717C
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USP8

NM_005154.5:p.Y717C

Associated Papers

A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours.

Miao H et al.

Clinical Endocrinology, 2024

Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing's disease and a systematic review of the literature.

Hashemi-Madani N et al.

Bmc Endocrine Disorders, 2024

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.

Rebollar-Vega RG et al.

Archives of Medical Research, 2023

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight.

Sbiera S et al.

Cancers, 2019

Biophysical and structural insight into the USP8/14-3-3 interaction.

Centorrino F et al.

Febs Letters, 2018

Mutations in the deubiquitinase gene USP8 cause Cushing's disease.

Reincke M et al.

Nature Genetics, 2015

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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."