Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.I506N
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IFIH1

NM_022168.4:p.I506N

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Gao C et al.

Frontiers in Genetics, 2019

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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."