Fig. 1: Association between GPV and phenotypes.
From: Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
a Boxplots (median, 25th–75th percentile, ±1.5) of the genotypic phenotype value (GPV; that is, the maximum allelic phenotype value of the two genotype-determining alleles) for three metabolic phenotypes in 8669 phenylketonuria (PKU) patients. Circles represent outliers. Numbers show the numbers of cases, with the number of outliers in brackets. Dark grey areas represent cut-off ranges. cPKU classic PKU, mPKU mild PKU, MHP mild hyperphenylalaninaemia. b Boxplots (median, 25th–75th percentile, ±1.5) for GPV in 3665 tetrahydrobiopterin (BH4) responders and non-responders. Only cases tested for BH4 responsiveness were included. Circles represent outliers. The number of cases is shown below the boxes, with the number of outliers in brackets. For a definition of BH4 responsiveness, see “Patients, phenotypes and genotypes”
