Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L163L
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THAP1

NM_018105.3:p.L163L

Associated Papers

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

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS et al.

Parkinsonism & Related Disorders, 2012

Novel THAP1 gene mutations in patients with primary dystonia from southwest China.

Song W et al.

Journal of the Neurological Sciences, 2011

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

Groen JL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."