Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.D194V
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TOR1A

NM_000113.3:p.D194V

Associated Papers

Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?

Cascalho A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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

Demircioglu FE et al.

Elife, 2016

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

Dobričić V et al.

Parkinsonism & Related Disorders, 2015

Torsins: not your typical AAA+ ATPases.

Rose AE et al.

Critical Reviews in Biochemistry and Molecular Biology, 2015

Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Cheng FB et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."