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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIZ1

Variant:p.E370G

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CIZ1

NM_001131016.2:p.E370G

hg38:chr9:128179098 T>C

Associated Papers

Blepharospasm: A genetic screening study in 132 patients.

Hammer M et al.

Parkinsonism & Related Disorders, 2019

30956059 (PubMed )

Blepharospasm in a multiplex African-American pedigree.

Xiao J et al.

Journal of the Neurological Sciences, 2016

26944167 (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."