Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.Q249*
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ZIC3

NM_003413.4:p.Q249*

Associated Papers

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

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

Wessels MW et al.

Journal of Medical Genetics, 2010

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

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."