Varaico: Literature-Extracted Genetic Variants

Gene:USP8
Variant:p.D721N
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USP8

NM_005154.5:p.D721N

Associated Papers

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

Pituitary Tumors: Genetic and Molecular Factors Underlying Pathogenesis and Clinical Behavior.

Spada A et al.

Neuroendocrinology, 2022

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

Sbiera S et al.

Cancers, 2019

[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

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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."