Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.S116*
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IFNGR1

NM_000416.3:p.S116*

Associated Papers

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

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.

Jouanguy E et al.

Nature Genetics, 1999

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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."