Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L369*
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ZEB2

NM_014795.4:p.L369*

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

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Frisk S et al.

Molecular Genetics & Genomic Medicine, 2022

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

Wu L et al.

Frontiers in Genetics, 2022

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.

Frith K et al.

International Journal of Molecular Sciences, 2021

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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."