Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.D848E
Back to variants list

IFIH1

NM_022168.4:p.D848E

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

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Ruaud L et al.

Human Mutation, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."