Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.P275_L276Fs
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IFNGR1

NM_000416.3:p.P275_L276Fs

Associated Papers

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

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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."