Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.L217insFs
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SLC16A2

NM_006517.5:p.L217insFs

Associated Papers

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.

Martorell L et al.

Movement Disorders Clinical Practice, 2022

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

The use of next-generation sequencing in movement disorders.

Krebs CE et al.

Frontiers in Genetics, 2012

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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."