Variant: rs1057517423 

    present in Gene: TH
    present in Chromosome: 11
    Position on Chromosome: 2167909
    Alleles of this Variant: G/A

rs1057517423 in TH gene and DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.

PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.