Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.T791delFs
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ZEB2

NM_014795.4:p.T791delFs

Associated Papers

Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.

St Peter C et al.

International Journal of Molecular Sciences, 2024

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Fu Y et al.

Frontiers in Genetics, 2022

35646055 (PubMed )
Supplement: DataSheet1.xls › All_the_ZEB2_variants

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27831545 (PubMed )
Supplement: gim2016176x1.zip › gim2016176x1 › Table_S3.docx

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL et al.

American Journal of Medical Genetics. Part A, 2014

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM et al.

American Journal of Medical Genetics. Part A, 2013

The behavioral phenotype of Mowat-Wilson syndrome.

Evans E et al.

American Journal of Medical Genetics. Part A, 2012

Clinical utility gene card for: Mowat-Wilson syndrome.

Zollino M et al.

European Journal of Human Genetics : Ejhg, 2011

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).

Sasso A et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2008

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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."