Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.M691V
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STAT1

NM_007315.4:p.M691V

Associated Papers

Rare STAT1 variants in Moroccan tuberculosis patients: insights into host genetic susceptibility.

Zaidi S et al.

Clinical and Experimental Immunology, 2026

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

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.

Asano T et al.

Clinical and Experimental Immunology, 2023

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

Ono R et al.

Journal of Clinical Immunology, 2023

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.

Chen X et al.

Journal of Clinical Immunology, 2022

Two novel STAT1 mutations cause Mendelian susceptibility to mycobacterial disease.

Liu Z et al.

Biochemical and Biophysical Research Communications, 2022

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.

Ye F et al.

Frontiers in Cellular and Infection Microbiology, 2022

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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."