Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.E157K
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STAT2

NM_005419.4:p.E157K

Associated Papers

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.

Chen X et al.

Journal of Clinical Immunology, 2022

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S et al.

Journal of Clinical Immunology, 2020

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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."