Varaico: Literature-Extracted Genetic Variants

Gene:CIZ1
Variant:p.L20_Q27del0
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CIZ1

NM_001131016.2:p.L20_Q27del0

Associated Papers

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

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Dufke C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

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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."