Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.S547*
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ZEB2

NM_014795.4:p.S547*

Associated Papers

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

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: neurological and molecular study in seven patients.

Paz JA et al.

Arquivos De Neuro-psiquiatria, 2015

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F et al.

Human Mutation, 2007

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C et al.

European Journal of Medical Genetics, 0

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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."