Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I306L
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PAH

NM_000277.3:p.I306L

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

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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."