Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR2
Variant:p.Y175delFs
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IFNGR2

NM_005534.4:p.Y175delFs

Associated Papers

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.

Taramasso L et al.

Journal of Clinical Immunology, 2014

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

Moncada-Vélez M et al.

Blood, 2013

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.

Al-Muhsen S et al.

The Journal of Allergy and Clinical Immunology, 2008

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Filipe-Santos O et al.

Seminars in Immunology, 2006

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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."