Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.E711Q
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STAT1

NM_007315.4:p.E711Q

Associated Papers

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Lei WT et al.

Journal of Clinical Immunology, 2024

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Asano T et al.

Immunological Reviews, 2024

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W et al.

Frontiers in Immunology, 2021

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

Okada S et al.

Journal of Clinical Immunology, 2020

Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation.

Sáez-de-Ocariz M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 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."