Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.V367F
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ALDH7A1

NM_001182.5:p.V367F

Associated Papers

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 2014

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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."