Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.I707T
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STAT1

NM_007315.4:p.I707T

Associated Papers

Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation.

Xiao J et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2025

A novel loss-of-function variant in STAT1 causes Mendelian susceptibility to mycobacterial disease.

Lv K et al.

Frontiers in Cellular and Infection Microbiology, 2025

Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.

Refaat M et al.

Pathogens & Immunity, 2025

A case of Bacille Calmette-Guérin-induced generalized lupus vulgaris in a Mendelian susceptibility to mycobacterial disease patient with a novel STAT1 variant.

Liu Y et al.

The Journal of Dermatology, 2024

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.

Errami A et al.

Journal of Clinical Immunology, 2023

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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."