Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H290Q
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PAH

NM_000277.3:p.H290Q

Associated Papers

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

Trunzo R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Characterization of metal ligand mutants of phenylalanine hydroxylase: Insights into the plasticity of a 2-histidine-1-carboxylate triad.

Li J et al.

Archives of Biochemistry and Biophysics, 2008

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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."