Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.Y417C
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ECE2

NM_001100121.2:p.Y417C

Associated Papers

Dominant-negative ALK2 allele associates with congenital heart defects.

Smith KA et al.

Circulation, 2009

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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."