Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.G390R
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ALDH7A1

NM_001202404.2:p.G390R

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______

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Salih MA et al.

Frontiers in Psychiatry, 2024

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