Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.E140K
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ADAR

NM_001111.5:p.E140K

Associated Papers

Identification and characterization of ADAR1 mutations and changes in gene expression in human cancers.

Valentine A et al.

Cancer Genetics, 2024

Ordered assembly of the cytosolic RNA-sensing MDA5-MAVS signaling complex via binding to unanchored K63-linked poly-ubiquitin chains.

Song B et al.

Immunity, 2021

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

Piekutowska-Abramczuk D et al.

Folia Neuropathologica, 2016

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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."