Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q497*
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ZEB2

NM_014795.4:p.Q497*

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

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada Y et al.

American Journal of Medical Genetics. Part A, 2014

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

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara N et al.

Journal of Medical Genetics, 2004

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C et al.

European Journal of Medical Genetics, 0

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