Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355_Y356Splc
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PAH

NM_000277.3:p.Q355_Y356Splc

Associated Papers

A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.

Rahimzadeh A et al.

Advanced Biomedical Research, 2024

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.

Rastegar Moghadam M et al.

Medical Journal of the Islamic Republic of Iran, 2018

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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."