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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLAT

Variant:p.P325_V326Splc

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DLAT

NM_001931.5:p.P325_V326Splc

hg38:chr11:112037467 A>G

Associated Papers

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

McWilliam CA et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010

20022530 (PubMed )

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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."