Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.R115K
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ALDH7A1

NM_001182.5:p.R115K

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

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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."