Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Q901*
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ZEB2

NM_014795.4:p.Q901*

Associated Papers

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Caraffi SG et al.

European Journal of Human Genetics : Ejhg, 2024

38351292 (PubMed )
Supplement: 41431_2024_1548_MOESM1_ESM.pdf

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

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM et al.

American Journal of Medical Genetics. Part A, 2013

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