Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E182K
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PAH

NM_000277.3:p.E182K

Associated Papers

Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).

Patalan M et al.

International Journal of Environmental Research and Public Health, 2022

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Ferreira F et al.

Molecular Genetics & Genomic Medicine, 2021

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Su Y et al.

Annals of Translational Medicine, 2019

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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."