Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F410I
Back to variants list

PAH

NM_000277.3:p.F410I

Associated Papers

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.

Cannet C et al.

Molecules (basel, Switzerland), 2023

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Bayat A et al.

Clinical Genetics, 2016

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."