Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.L280W
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STAT1

NM_007315.4:p.L280W

Associated Papers

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

Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.

Shiraki M et al.

Children (basel, Switzerland), 2021

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

Zhang W et al.

Frontiers in Immunology, 2021

Monogenic mimics of Behçet's disease in the young.

Papadopoulou C et al.

Rheumatology (oxford, England), 2019

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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."