Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.L433_Y434delFs
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ALDH7A1

NM_001182.5:p.L433_Y434delFs

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______

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.

Zou D et al.

Brain : a Journal of Neurology, 2021

34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
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