Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L562*
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ZEB2

NM_014795.4:p.L562*

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

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

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P et al.

Journal of Medical Genetics, 2004

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel J et al.

American Journal of Human Genetics, 2001

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C et al.

European Journal of Medical Genetics, 0

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