Variant: rs104893665 

    present in Gene: SPR
    present in Chromosome: 2
    Position on Chromosome: 72888457
    Alleles of this Variant: A/G

rs104893665 in SPR gene and Dystonia PMID 23430877 2012 Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

PMID 21431957 2011 Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

PMID 21677200 2011 Whole-genome sequencing for optimized patient management.

PMID 24212389 2013 Very early pattern of movement disorders in sepiapterin reductase deficiency.

rs104893665 in SPR gene and Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency PMID 17159114 2006 Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

PMID 16650784 2006 Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.