Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G2Splc
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PLP1

NM_000533.5:p.G2Splc

Associated Papers

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Kanno J et al.

Molecular Genetics and Metabolism, 2007

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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."