Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L358*
Back to variants list

PAH

NM_000277.3:p.L358*

Associated Papers

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Zhou J et al.

Molecular Biology Reports, 2022

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].

Qu YJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

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."