Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.C265G
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PAH

NM_000277.3:p.C265G

Associated Papers

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Himmelreich N et al.

Molecular Genetics and Metabolism, 2024

In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.

Lopez A et al.

Proteins, 2021

[Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].

Zhao ZD et al.

Zhonghua Yi Xue Za Zhi, 2020

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

Carter KC et al.

European Journal of Human Genetics : Ejhg, 1998

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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."