Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.V42_T43delFs
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ENG

NM_001114753.3:p.V42_T43delFs

Associated Papers

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Canzonieri C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.

Akagawa H et al.

Neurology India, 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."