Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.T36insFs
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IFNGR1

NM_000416.3:p.T36insFs

Associated Papers

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

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

van de Vosse E et al.

Human Mutation, 2017

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

Edeer Karaca N et al.

Immunotherapy, 2012

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Dorman SE et al.

Lancet (london, England), 0

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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."