Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.K148_D149Splc
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TOR1A

NM_000113.3:p.K148_D149Splc

Associated Papers

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Gómez-Garre P et al.

European Journal of Neurology, 2021

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."