Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.R289G
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ALDH7A1

NM_001182.5:p.R289G

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______

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K et al.

Seizure, 2018

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