Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.R330*
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STAT2

NM_005419.4:p.R330*

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

Host genetic factors determining COVID-19 susceptibility and severity.

Velavan TP et al.

Ebiomedicine, 2021

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.

Povysil G et al.

The Journal of Clinical Investigation, 2021

Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19?

Cotsapas C et al.

The Journal of Clinical Investigation, 2021

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

Povysil G et al.

Medrxiv : the Preprint Server for Health Sciences, 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."