Varaico: Literature-Extracted Genetic Variants

Gene:TOR2A
Variant:p.R190C
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TOR2A

NM_001085347.3:p.R190C

Associated Papers

TOR2A Variants in Blepharospasm.

Saeirad S et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023

Genetic screening in patients of Meige syndrome and blepharospasm.

Teng X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.

Ma H et al.

Frontiers in Neurology, 2021

Blepharospasm: A genetic screening study in 132 patients.

Hammer M et al.

Parkinsonism & Related Disorders, 2019

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J et al.

Molecular Genetics & Genomic Medicine, 2018

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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."