Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E56_E57Splc
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PAH

NM_000277.3:p.E56_E57Splc

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

Quality of diagnostic mutation analyses for phenylketonuria.

Zschocke J et al.

Journal of Inherited Metabolic Disease, 2008

[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."