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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH7A1

Variant:p.L336_F337Splc

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ALDH7A1

NM_001182.5:p.L336_F337Splc

hg38:chr5:126556016 C>T

Associated Papers

Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.

Gowda VK et al.

Indian Pediatrics, 2025

40172593 (PubMed )

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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."