Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.S287Y
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TOR1A

NM_000113.3:p.S287Y

Associated Papers

Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.

Xu L et al.

Neurobiology of Disease, 2020

A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.

Long Y et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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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."