Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V291M
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PAH

NM_000277.3:p.V291M

Associated Papers

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.

Zeng B et al.

Frontiers in Genetics, 2023

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

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Liu N et al.

Bmc Medical Genetics, 2018

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Liu N et al.

Bmc Medical Genetics, 2017

28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1

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

Li N et al.

Scientific Reports, 2015

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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."