Varaico: Literature-Extracted Genetic Variants

Gene:ZFPM2
Variant:p.R112*
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ZFPM2

NM_012082.4:p.R112*

Associated Papers

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

Yu L et al.

Human Molecular Genetics, 2015

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Longoni M et al.

Clinical Genetics, 2015

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Wat MJ et al.

Journal of Medical Genetics, 2011

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

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB et al.

European Journal of Human Genetics : Ejhg, 2007

Fog2 is required for normal diaphragm and lung development in mice and humans.

Ackerman KG et al.

Plos Genetics, 2005

Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins.

Cantor AB et al.

Seminars in Cell & Developmental Biology, 2005

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

Brady PD et al.

European Journal of Medical Genetics, 0

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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."