Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.G155G
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ECHS1

NM_004092.4:p.G155G

Associated Papers

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

Ronchi D et al.

Annals of Clinical and Translational Neurology, 2020

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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."