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Article

Analysis of PAH Genetic Variation and Phenotypic Diversity in the PAHvdb.

International journal of molecular sciences - 29 Jul 2026

Amirgazin Asylulan, Mambetpayeva Bakhyt, Akhmetova Assel, Kairzhanova Alma, Shevtsov Alexandr

Abstract excerpt

The Phenylalanine Hydroxylase Gene Locus-Specific Database and BIOPKU are public databases used to track genotypes in hyperphenylalaninemia. However, the rapidly expanding databases and evolving nomenclature standards require a comprehensive characterization of the current variant landscape. We performed a descriptive statistical analysis of PAH variant allocations, allele frequencies (AF%), and phenotypic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42589429
DOI: 10.3390/ijms27156772
PMCID: PMC13467348

Genes

PAH

Provenance

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