Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.E294*
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TOR1A

NM_000113.3:p.E294*

Associated Papers

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Berry JG et al.

Ebiomedicine, 2025

41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Wadon ME et al.

Journal of Neurology, 2022

35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
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