Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.Q218*
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USP18

NM_017414.4:p.Q218*

Associated Papers

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.

Duncan CJA et al.

Journal of Clinical Immunology, 2021

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME et al.

The Journal of Experimental Medicine, 2016

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

Sehrish I et al.

Journal of Reproduction & Infertility, 0

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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."