Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.A489D
Back to variants list

IFIH1

NM_022168.4:p.A489D

Associated Papers

Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.

Yamazaki S et al.

Immunological Medicine, 2025

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."