Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q461*
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ZEB2

NM_014795.4:p.Q461*

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

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

Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

Valera ET et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2013

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F et al.

Human Mutation, 2007

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Gregory-Evans CY et al.

American Journal of Medical Genetics. Part A, 2004

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M et al.

American Journal of Medical Genetics. Part A, 2003

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."