Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A60T
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ENG

NM_001114753.3:p.A60T

Associated Papers

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Proust C et al.

Communications Biology, 2025

40681766 (PubMed )
Supplement: 42003_2025_8461_MOESM4_ESM.xlsx › Supp._Data__2_Output_MORFEE
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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."