Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q433*
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ZEB2

NM_014795.4:p.Q433*

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

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

De La Vega FM et al.

Genome Medicine, 2021

34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1

Mowat-Wilson syndrome in a Chinese population: A case series.

Ho S et al.

American Journal of Medical Genetics. Part A, 2020

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kingsmore SF et al.

American Journal of Human Genetics, 2019

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

Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.

Sasongko TH et al.

The Kobe Journal of Medical Sciences, 2007

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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."