Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.D420E
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ALDH7A1

NM_001182.5:p.D420E

Associated Papers

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

Scharer G et al.

Journal of Inherited Metabolic Disease, 2010

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Bennett CL et al.

Epilepsia, 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."