Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N438I
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PAH

NM_000277.3:p.N438I

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

Mutational landscape of phenylketonuria in Iran.

Ajami N et al.

Journal of Cellular and Molecular Medicine, 2023

37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1

Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.

Jafarzadeh-Esfehani R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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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."