Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.Q36P
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ZIC2

NM_007129.5:p.Q36P

Associated Papers

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.

Xiong J et al.

Medicine, 2019

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.

Dykes IM et al.

Scientific Reports, 2018

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.

Houtmeyers R et al.

Human Molecular Genetics, 2016

Zic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patients.

Hatayama M et al.

Scientific Reports, 2011

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Solomon BD et al.

Journal of Medical Genetics, 2010

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E et al.

Human Mutation, 2009

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

Brown L et al.

Human Molecular Genetics, 2005

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C et al.

Human Mutation, 2004

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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."