Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.V129I
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TOR1A

NM_000113.3:p.V129I

Associated Papers

Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

Demircioglu FE et al.

Elife, 2016

Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

Verbeek DS et al.

Frontiers in Neurology, 2016

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

Dobričić V et al.

Parkinsonism & Related Disorders, 2015

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