Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.H425R
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ALDH7A1

NM_001182.5:p.H425R

Associated Papers

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Al Teneiji A et al.

Metabolic Brain Disease, 2017

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC et al.

Annals of Neurology, 2009

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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."