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Article

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019

Garbade Sven F, Shen Nan, Himmelreich Nastassja, Haas Dorothea, Trefz Friedrich K, Hoffmann Georg F, Burgard Peter, Blau Nenad

Abstract excerpt

PURPOSE: The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We exploited the statistical power of a large genotype database to determine the relationship between genotype and phenotype in PKU. METHODS: A total of 9336 PKU patients with 2589 different genotypes, carrying 588 variants, were investigated using an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29997390
DOI: 10.1038/s41436-018-0081-x

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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