Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.V883insFs
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ADAR

NM_001111.5:p.V883insFs

Associated Papers

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

Rice GI et al.

Neuropediatrics, 2017

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

Livingston JH et al.

Journal of Medical Genetics, 2014

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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."