Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T323_I324Splc
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PAH

NM_000277.3:p.T323_I324Splc

Associated Papers

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

Odagiri S et al.

International Journal of Neonatal Screening, 2021

33803550 (PubMed )
Supplement: IJNS-07-00017-s001.zip › IJNS-1138821-supplementary.xlsx › ___370_____

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.

Biglari A et al.

Springerplus, 2015

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C et al.

Human Mutation, 2003

[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].

Nechiporenko MV et al.

Tsitologiia I Genetika, 0

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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."