Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.K349R
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IFIH1

NM_022168.4:p.K349R

Associated Papers

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

Song W et al.

Journal of Medical Genetics, 2024

Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.

Dashti M et al.

Frontiers in Cellular and Infection Microbiology, 2024

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Ishaq R et al.

Genes, 2023

A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours.

McCreary D et al.

Frontiers in Immunology, 2022

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK et al.

Annals of the Rheumatic Diseases, 2021

33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn IT et al.

The Journal of Experimental Medicine, 2017

28606988 (PubMed )
Supplement: JEM_20161759_TableS3.xlsx › Sheet6

The selective footprints of viral pressures at the human RIG-I-like receptor family.

Vasseur E et al.

Human Molecular Genetics, 2011

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

Nejentsev S et al.

Science (new York, N.y.), 2009

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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."