Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D229G
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PAH

NM_000277.3:p.D229G

Associated Papers

Bending of DNA duplexes with mutation motifs.

Růžička M et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Pecimonova M et al.

Genes, 2019

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Réblová K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

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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."