Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR2
Variant:p.L79*
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IFNAR2

NM_001289125.3:p.L79*

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

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

36976641 (PubMed )
Supplement: jci-133-168321-s202.pdf

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.

Duncan CJA et al.

The Journal of Experimental Medicine, 2022

IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis.

Passarelli C et al.

Frontiers in Genetics, 2020

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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."