Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G103D
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PAH

NM_000277.3:p.G103D

Associated Papers

Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study.

Su Y et al.

Bmc Medicine, 2024

39256839 (PubMed )
Supplement: 12916_2024_3602_MOESM1_ESM.xlsx › Table_S3

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Su Y et al.

Annals of Translational Medicine, 2019

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."