Varaico: Literature-Extracted Genetic Variants

Gene:DLAT
Variant:p.F576L
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DLAT

NM_001931.5:p.F576L

Associated Papers

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

Policherla J et al.

Journal of Neurogenetics, 2024

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.

Shelkowitz E et al.

Journal of Child Neurology, 2020

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