Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.G199del1
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CITED2

NM_006079.5:p.G199del1

Associated Papers

CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expression.

Li Q et al.

Biochemical and Biophysical Research Communications, 2012

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."