Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.M1V
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THAP1

NM_018105.3:p.M1V

Associated Papers

New THAP1 mutation and role of putative modifier in TOR1A.

Piovesana LG et al.

Acta Neurologica Scandinavica, 2017

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

da Silva-Junior FP et al.

Journal of the Neurological Sciences, 2014

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

LeDoux MS et al.

Parkinsonism & Related Disorders, 2012

Identification and functional analysis of novel THAP1 mutations.

Lohmann K et al.

European Journal of Human Genetics : Ejhg, 2012

Mutational screening of THAP1 in a German population with primary dystonia.

Kaffe M et al.

Parkinsonism & Related Disorders, 2012

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

Blanchard A et al.

Human Mutation, 2011

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

De Carvalho Aguiar P 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."