Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.V322_Y328del0
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TOR1A

NM_000113.3:p.V322_Y328del0

Associated Papers

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

Dobričić V et al.

Parkinsonism & Related Disorders, 2015

Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

Hettich J et al.

Human Mutation, 2014

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.

Vulinovic F et al.

Human Mutation, 2014

Genetics and treatment of dystonia.

Schwarz CS et al.

Neurologic Clinics, 2009

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

Zirn B et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.

Fasano A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

Mutations in DYT1: extension of the phenotypic and mutational spectrum.

Kabakci K et al.

Neurology, 2004

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

Leung JC et al.

Neurogenetics, 2001

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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."