Varaico: Literature-Extracted Genetic Variants

Gene:CIZ1
Variant:p.Q390H
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CIZ1

NM_001131016.2:p.Q390H

Associated Papers

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Blepharospasm: A genetic screening study in 132 patients.

Hammer M et al.

Parkinsonism & Related Disorders, 2019

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child

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."