Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.Y175fs
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IFNGR1

NM_000416.3:p.Y175fs

Associated Papers

A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.

Labere B et al.

Journal of Clinical Immunology, 2024

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2021

CD4 T cell-restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency.

Khanolkar A et al.

The Journal of Allergy and Clinical Immunology, 2018

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

van de Vosse E et al.

Human Mutation, 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."