Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.P8delFs
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IFNGR1

NM_000416.3:p.P8delFs

Associated Papers

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

van de Vosse E et al.

Human Mutation, 2017

Germline mutations predisposing to diffuse large B-cell lymphoma.

Leeksma OC et al.

Blood Cancer Journal, 2017

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS et al.

The Journal of Experimental Medicine, 2016

27401342 (PubMed )
Supplement: supp_jem.20151467_JEM_20151467_sm.pdf

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

Qu HQ et al.

International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2011

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Kong XF et al.

Human Molecular Genetics, 2010

Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.

Guide SV et al.

Infectious Disease Clinics of North America, 2002

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

Jouanguy E et al.

The Journal of Clinical Investigation, 2000

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

Dorman SE et al.

Lancet (london, England), 0

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