Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L250delFs
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ALDH7A1

NM_001182.5:p.L250delFs

Associated Papers

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Scharer G et al.

Journal of Inherited Metabolic Disease, 2010

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Mills PB et al.

Brain : a Journal of Neurology, 2010

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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."