Varaico: Literature-Extracted Genetic Variants

Gene:DLAT
Variant:p.V157G
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DLAT

NM_001931.5:p.V157G

Associated Papers

Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation.

Policherla J et al.

Journal of Neurogenetics, 2024

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.

Friedman J et al.

Neurology, 2017

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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."