Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y92F
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PLP1

NM_000533.5:p.Y92F

Associated Papers

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

Montioli R et al.

Journal of Inherited Metabolic Disease, 2011

Complementation analysis of mutants of 1-aminocyclopropane- 1-carboxylate synthase reveals the enzyme is a dimer with shared active sites.

Tarun AS et al.

The Journal of Biological Chemistry, 1998

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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."