Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.P217A
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ZIC3

NM_003413.4:p.P217A

Associated Papers

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

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2016

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

Cowan J et al.

Human Mutation, 2014

Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.

Chen L et al.

Biochimica Et Biophysica Acta, 2013

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.

D'Alessandro LC et al.

American Journal of Medical Genetics. Part A, 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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette.

Zhu L et al.

Frontiers in Bioscience : a Journal and Virtual Library, 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."