Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y387D
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PAH

NM_000277.3:p.Y387D

Associated Papers

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.

Yu X et al.

Discovery Medicine, 2023

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Qiang R et al.

Bioscience Reports, 2021

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

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N et al.

Scientific Reports, 2015

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].

Song F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

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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."