Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.A339D
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IFIH1

NM_022168.4:p.A339D

Associated Papers

Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Gabaldon-Albero A et al.

Pediatric Rheumatology Online Journal, 2024

LASSO-derived nomogram for early identification of pediatric monogenic lupus.

Zhang TY et al.

World Journal of Pediatrics : Wjp, 2024

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 2024

39347527 (PubMed )
Supplement: PED4-8-193-s001.pdf

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.

Song W et al.

Journal of Medical Genetics, 2024

38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1

Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.

Wang W et al.

Pediatric Rheumatology Online Journal, 2023

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Wang W et al.

World Journal of Pediatrics : Wjp, 2022

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Li W et al.

Frontiers in Immunology, 2022

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 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."