Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.Q308*
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IFNAR1

NM_000629.3:p.Q308*

Associated Papers

Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.

López-Nevado M et al.

Journal of Clinical Immunology, 2023

Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic.

Meyts I

The Journal of Experimental Medicine, 2022

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.

Abolhassani H et al.

Journal of Clinical Immunology, 2022

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

Gothe F et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2022

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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."