Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E353*
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PAH

NM_000277.3:p.E353*

Associated Papers

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Zhou J et al.

Molecular Biology Reports, 2022

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

Zhang X et al.

Gene, 2019

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Wang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].

Qu YJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."