Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.F445_N448del4
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ALDH7A1

NM_001182.5:p.F445_N448del4

Associated Papers

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.

Jiao X et al.

Frontiers in Genetics, 2022

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Alghamdi M et al.

Clinical Genetics, 2021

Update on the treatment of vitamin B6 dependent epilepsies.

Mastrangelo M et al.

Expert Review of Neurotherapeutics, 2019

Disorders affecting vitamin B6 metabolism.

Wilson MP et al.

Journal of Inherited Metabolic Disease, 2019

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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."