Varaico: Literature-Extracted Genetic Variants

Gene:USP8
Variant:p.S718F
Back to variants list

USP8

NM_005154.5:p.S718F

Associated Papers

Prevalence and clinical associations of USP8 variants in corticotroph tumours: a systematic review and aggregate data meta-analysis of 2171 cases.

Perez-Rivas LG et al.

European Journal of Endocrinology, 2025

40392165 (PubMed )
Supplement: lvaf097_supplementary_data.zip › Supplementary_Information_S1corrected.docx

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

Miao H et al.

Clinical Endocrinology, 2024

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

Rebollar-Vega RG et al.

Archives of Medical Research, 2023

The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease.

Hayashi K et al.

European Journal of Endocrinology, 2016

[An analysis of mutations causing Gaucher disease in Chinese population].

Zhang WM et al.

Zhonghua Yi Xue Za Zhi, 2009

[Relationship of variation 3057 G-->A of exon 20 of leptin receptor gene to lipid metabolism and fat distribution of children with obesity].

Liu CY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."