Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q104*
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ZEB2

NM_014795.4:p.Q104*

Associated Papers

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Kablan A et al.

American Journal of Medical Genetics. Part A, 2025

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Caraffi SG et al.

European Journal of Human Genetics : Ejhg, 2024

38351292 (PubMed )
Supplement: 41431_2024_1548_MOESM1_ESM.pdf

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

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

Cordelli DM et al.

American Journal of Medical Genetics. Part A, 2013

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

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Cecconi M et al.

American Journal of Medical Genetics. Part A, 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."