Varaico: Literature-Extracted Genetic Variants

Gene:IL17RA
Variant:p.R66*
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IL17RA

NM_014339.7:p.R66*

Associated Papers

Deciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations.

Kadhi A et al.

Frontiers in Immunology, 2024

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Lévy R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."