Varaico: Literature-Extracted Genetic Variants

Gene:CIZ1
Variant:p.S264G
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CIZ1

NM_001131016.2:p.S264G

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

Blepharospasm: A genetic screening study in 132 patients.

Hammer M et al.

Parkinsonism & Related Disorders, 2019

Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice.

Xiao J et al.

Febs Letters, 2018

Motor phenotypes and molecular networks associated with germline deficiency of Ciz1.

Xiao J et al.

Experimental Neurology, 2016

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Genetics in dystonia: an update.

Fuchs T et al.

Current Neurology and Neuroscience Reports, 2013

The genetics of dystonia: new twists in an old tale.

Charlesworth G et al.

Brain : a Journal of Neurology, 2013

Emerging common molecular pathways for primary dystonia.

Ledoux MS et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Mutations in CIZ1 cause adult onset primary cervical dystonia.

Xiao J et al.

Annals of Neurology, 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."