Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.T672delFs
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IFIH1

NM_022168.4:p.T672delFs

Associated Papers

How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.

Ince I et al.

Journal of Translational Autoimmunity, 2026

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

Haslak F et al.

The Journal of Rheumatology, 2024

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

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

Najm R et al.

Scandinavian Journal of Immunology, 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

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Abuhammour W et al.

Jama Network Open, 2022

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.

Cananzi M et al.

Human Genetics, 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
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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."