Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R921*
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ZEB2

NM_014795.4:p.R921*

Associated Papers

Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.

Ju Y et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

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

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Pachajoa H et al.

Pharmacogenomics and Personalized Medicine, 2022

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.

Wu L et al.

Frontiers in Genetics, 2022

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants.

Zou D et al.

Experimental and Therapeutic Medicine, 2020

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

Kilic E et al.

Journal of Child Neurology, 2016

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Bourchany A et al.

American Journal of Medical Genetics. Part A, 2015

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada Y et al.

American Journal of Medical Genetics. Part A, 2014

ZEB2, a new candidate gene for asplenia.

Pons L et al.

Orphanet Journal of Rare Diseases, 2014

Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.

Tanteles GA et al.

Clinical Dysmorphology, 2014

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L et al.

American Journal of Medical Genetics. Part A, 2009

Mowat-Wilson syndrome.

Garavelli L et al.

Orphanet Journal of Rare Diseases, 2007

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F et al.

Human Mutation, 2007

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C et al.

European Journal of Medical Genetics, 0

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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."