Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.L104_G107Fs
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ADAR

NM_001111.5:p.L104_G107Fs

Associated Papers

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."