Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.F306I
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ALDH7A1

NM_001182.5:p.F306I

Associated Papers

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Donge M et al.

International Journal of Neonatal Screening, 2025

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