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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOR1A

Variant:p.H254D

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TOR1A

NM_000113.3:p.H254D

hg38:chr9:129814211 G>C

Associated Papers

Dynamic functional assembly of the Torsin AAA+ ATPase and its modulation by LAP1.

Chase AR et al.

Molecular Biology of the Cell, 2017

28814508 (PubMed )

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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."