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612716.1
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Subject Details
Country
Lebanon
HPO Terms
Dystonia; Scoliosis
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003124.5:c.260C>A
2
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
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References
Jalkh et al. 2019
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