Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.D462_N464delFs
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ADAR

NM_001111.5:p.D462_N464delFs

Associated Papers

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

Zerad L et al.

Stem Cell Research, 2025

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI et al.

Neuropediatrics, 2017

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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."