Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.L679delFs
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IFIH1

NM_022168.4:p.L679delFs

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

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 and DDX58 gene variants in pediatric rheumatic diseases.

Raupov R et al.

World Journal of Clinical Pediatrics, 2023

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

Cananzi M et al.

Human Genetics, 2021

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
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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."