Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.T321delFs
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TOR1A

NM_000113.3:p.T321delFs

Associated Papers

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Gómez-Garre P et al.

European Journal of Neurology, 2021

Biallelic TOR1A variants in an infant with severe arthrogryposis.

Reichert SC et al.

Neurology. Genetics, 2017

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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."