Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.Y328del1
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TOR1A

NM_000113.3:p.Y328del1

Associated Papers

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.

Vulinovic F et al.

Human Mutation, 2014

The early onset dystonia protein torsinA interacts with kinesin light chain 1.

Kamm C et al.

The Journal of Biological Chemistry, 2004

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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."