Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.G291Splc
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ALDH7A1

NM_001182.5:p.G291Splc

Associated Papers

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Yu X et al.

Frontiers in Neurology, 2025

40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.

Fang C et al.

Epilepsy Research, 2024

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.

Yuzyuk T et al.

Molecular Genetics and Metabolism, 2016

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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."