Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R68*
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PAH

NM_000277.3:p.R68*

Associated Papers

The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.

Yu I et al.

International Journal of Stem Cells, 2025

Computational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH4 Binding.

Islam SM et al.

Acs Omega, 2025

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

Lopez A et al.

Proteins, 2021

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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."