Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L385P
Back to variants list

PAH

NM_000277.3:p.L385P

Associated Papers

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Zhu T et al.

Scientific Reports, 2017

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

Zhu T et al.

Gene, 2013

[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test].

Zhang ZX et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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."