Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions
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Objective: Phenylketonuria (PKU) is a genetic metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, with an incidence rate in China of approximately 1 in 11,000. PKU exhibits high heterogeneity, maki... ...
