Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A9insFs
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ENG

NM_001114753.3:p.A9insFs

Associated Papers

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia.

Tørring PM et al.

Genetic Testing and Molecular Biomarkers, 2012

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G et al.

Human Mutation, 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."