Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R218_G219insFs
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ZEB2

NM_014795.4:p.R218_G219insFs

Associated Papers

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Musante I et al.

Neurobiology of Disease, 2026

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

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Gorrieri G et al.

Stem Cell Research, 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

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

Cordelli DM et al.

American Journal of Medical Genetics. Part A, 2013

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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."