Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.Q292*
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ZIC3

NM_003413.4:p.Q292*

Associated Papers

Systematized reporter assays reveal ZIC protein regulatory abilities are Subclass-specific and dependent upon transcription factor binding site context.

Ahmed JN et al.

Scientific Reports, 2020

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Li S et al.

Scientific Reports, 2018

Genetic and functional analyses of ZIC3 variants in congenital heart disease.

Cowan J et al.

Human Mutation, 2014

A murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formation.

Ahmed JN et al.

Disease Models & Mechanisms, 2013

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.

Ma L et al.

Cardiology in the Young, 2012

Characterization of the interactions of human ZIC3 mutants with GLI3.

Zhu L et al.

Human Mutation, 2008

Identification of a novel role of ZIC3 in regulating cardiac development.

Zhu L et al.

Human Molecular Genetics, 2007

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

Chhin B et al.

Human Mutation, 2007

Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.

Bedard JE et al.

Human Molecular Genetics, 2007

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM et al.

American Journal of Human Genetics, 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."