Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.E286delFs
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ZEB2

NM_014795.4:p.E286delFs

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

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

Ho S et al.

American Journal of Medical Genetics. Part A, 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

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F et al.

Human Mutation, 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."