Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.F45fs
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THAP1

NM_018105.3:p.F45fs

Associated Papers

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.

Mitchell BD et al.

American Journal of Medical Genetics. Part A, 2025

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

Lange LM et al.

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

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

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

LeDoux MS et al.

Parkinsonism & Related Disorders, 2012

The genetics of dystonias.

LeDoux MS

Advances in Genetics, 2012

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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."