ZEB2

Gene name: zinc finger E-box binding homeobox 2
OMIM ID: 605802
Chromosome location: 2q22.3

Mutations

Disease/Phenotype	Mowat-Wilson syndrome
Reference transcript	NM_014795.3
DNA Change	c.1165A>T
A.A. Change	p.Lys389X
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A.Mowat-Wilson syndrome in a Moroccan consanguineous family. Indian J Hum Genet. 2007 Sep;13(3):122-4.

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