Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.E813D
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IFIH1

NM_022168.4:p.E813D

Associated Papers

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

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI et al.

Human Mutation, 2020

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

Amari S et al.

European Journal of Medical Genetics, 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."