Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.K408*
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ZIC3

NM_003413.4:p.K408*

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

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2016

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

Ahmed JN et al.

Disease Models & Mechanisms, 2013

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."