Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.T193delins
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ENG

NM_001114753.3:p.T193delins

Associated Papers

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.

Snellings DA et al.

American Journal of Human Genetics, 2019

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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."