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phenylketonuria
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Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PAH
PTS
GCH1
QDPR
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
MODULE_78
MODULE_235
MODULE_40
aromatic amino acid family metabolic process
Phenylalanine-4-hydroxylase, tetrameric form
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Curated Studies
Most Correlated Studies
OMIM - Disorder of amino acid metabolism
Mouse Phenotypes - Autosomal recessive hereditary disorder
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Genetic etiology and clinical challenges of phenylketonuria.
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Phenylketonuria and the brain.
Phenylketonuria.
Mutational landscape of phenylketonuria in Iran.
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Clinical Trials
Most Relevant Clinical Trials
Sapropterin in Individuals With Phenylketonuria
Observational Study of Endothelial Dysfunction in Phenylketonuria
Nutritional Status in Phenylketonuria
Simplified Diet Approach in Phenylketonuria
A Study of PTC923 in Participants With Phenylketonuria
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