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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THAP1

Variant:p.R146fs

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THAP1

NM_018105.3:p.R146fs

hg38:chr8:42838166 C>CN

Associated Papers

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Domingo A et al.

American Journal of Human Genetics, 2021

34672987 (PubMed )

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

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

33247415 (PubMed )

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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."