Varaico: Literature-Extracted Genetic Variants

Gene:IL17RA
Variant:p.G643insFs
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IL17RA

NM_014339.7:p.G643insFs

Associated Papers

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

Okada S et al.

Journal of Clinical Immunology, 2020

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.

Boisson-Dupuis S et al.

Current Opinion in Immunology, 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L et al.

The Journal of Experimental Medicine, 2011

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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."