Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q956*
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ZEB2

NM_014795.4:p.Q956*

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

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 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

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI et al.

Nature Communications, 2019

30679432 (PubMed )
Supplement: 41467_2018_8262_MOESM5_ESM.xlsx › Sheet1

[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].

He XY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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."