Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F55del1
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PAH

NM_000277.3:p.F55del1

Associated Papers

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.

Ghanei M et al.

Human Heredity, 2023

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Tolve M et al.

Methods and Protocols, 2018

Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.

Razipour M et al.

Metabolic Brain Disease, 2017

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Zurflüh MR et al.

Human Mutation, 2008

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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."