Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.C5W
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THAP1

NM_018105.3:p.C5W

Associated Papers

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Jurek M et al.

Neurologia I Neurochirurgia Polska, 2014

[The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family].

Shen YW et al.

Zhonghua Nei Ke Za Zhi, 2005

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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."