Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Y434fs
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ALDH7A1

NM_001182.5:p.Y434fs

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Akbar F et al.

Epilepsy & Behavior Reports, 2022

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Coughlin CR et al.

Journal of Inherited Metabolic Disease, 2019

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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."