Varaico: Literature-Extracted Genetic Variants

Gene:TOR1B
Variant:p.E178Q
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TOR1B

NM_014506.3:p.E178Q

Associated Papers

Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction.

Atai NA et al.

International Journal of Cell Biology, 2012

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.

Jungwirth M et al.

Human Molecular Genetics, 2010

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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."