Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E228*
Back to variants list

PAH

NM_000277.3:p.E228*

Associated Papers

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

Zeng B et al.

Frontiers in Genetics, 2023

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Liang Y et al.

Journal of Human Genetics, 2014

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T et al.

Gene, 2013

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Zhu T et al.

Pediatric Research, 2010

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."