Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.P293L
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STAT1

NM_007315.4:p.P293L

Associated Papers

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Buddingh EP et al.

Journal of Human Immunity, 2025

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

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

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Körholz J 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

A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies.

Aldave Becerra JC et al.

Frontiers in Pediatrics, 2017

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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."