Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.Y269delFs
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IFNGR1

NM_000416.3:p.Y269delFs

Associated Papers

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.

Peñafiel Vicuña AK et al.

Journal of Clinical Immunology, 2023

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

van de Vosse E et al.

Human Mutation, 2017

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Bustamante J et al.

Seminars in Immunology, 2014

A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection.

Rose DM et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."