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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENG

Variant:p.T193_L194del0

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ENG

NM_001114753.3:p.T193_L194del0

hg38:chr9:127825801 CGAGCGT>C

Associated Papers

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

Argyriou L et al.

International Journal of Molecular Medicine, 2006

16525724 (PubMed )

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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."