Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R270I
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PAH

NM_000277.3:p.R270I

Associated Papers

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

Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.

Pecimonova M et al.

General Physiology and Biophysics, 2017

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Polak E et al.

Gene, 2013

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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."