Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R302*
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ZEB2

NM_014795.4:p.R302*

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

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

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Spedicati B et al.

Genes, 2022

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

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

Wu L et al.

Frontiers in Genetics, 2022

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.

Zhang Z et al.

Scientific Reports, 2017

Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.

Jiang Q et al.

Clinical Case Reports, 2017

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

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

Saunders CJ 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

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Gregory-Evans CY et al.

American Journal of Medical Genetics. Part A, 2004

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara N et al.

Journal of Medical Genetics, 2004

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."