Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.I37T
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IFNGR1

NM_000416.3:p.I37T

Associated Papers

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

39062917 (PubMed )
Supplement: ijms-25-07674-s001.zip › Supplementary_table_3.xlsx › ACMG_classified_variants

Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.

Kratzer B et al.

International Archives of Allergy and Immunology, 2023

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.

Zhou Z et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.

Göschl L et al.

Frontiers in Immunology, 2022

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

Parackova Z et al.

Journal of Clinical Immunology, 2020

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

van de Vosse E et al.

Human Mutation, 2017

Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency.

Çakan M et al.

The Turkish Journal of Pediatrics, 2016

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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."