Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H170R
Back to variants list

PAH

NM_000277.3:p.H170R

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

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

Li N et al.

Scientific Reports, 2015

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Eiken HG et al.

European Journal of Pediatrics, 1996

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

Eiken HG et al.

European Journal of Human Genetics : Ejhg, 1996

Science, medicine and phenylketonuria.

Scriver CR

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."