Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T200N
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PAH

NM_000277.3:p.T200N

Associated Papers

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

Pecimonova M et al.

Genes, 2019

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Chen T et al.

Scientific Reports, 2018

[Research progress on phenotype and genotype of hyperphenylalaninemia].

Chen T et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2018

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."