Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L417Fs
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ALDH7A1

NM_001182.5:p.L417Fs

Associated Papers

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.

Gibaud M et al.

Frontiers in Pediatrics, 2021

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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."