Varaico: Literature-Extracted Genetic Variants

Gene:IL17RA
Variant:p.E353K
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IL17RA

NM_014339.7:p.E353K

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

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

Pedraza-Sánchez S et al.

Frontiers in Immunology, 2017

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M et al.

Journal of Clinical Immunology, 2016

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

Yamazaki Y et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

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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."