Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.H152H
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CITED2

NM_006079.5:p.H152H

Associated Papers

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

28274167 (PubMed )
Supplement: supplement_1.doc

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

Sperling S et al.

Human Mutation, 2005

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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."