Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.V533L
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ZEB2

NM_014795.4:p.V533L

Associated Papers

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

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Babkina N et al.

European Journal of Medical Genetics, 2016

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid J et al.

Human Molecular Genetics, 2013

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."