Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E305*
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PAH

NM_000277.3:p.E305*

Associated Papers

Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.

Jalali H et al.

International Journal of Preventive Medicine, 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

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.

Treacy EP et al.

Human Molecular Genetics, 1998

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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."