Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.W149R
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ENG

NM_001114753.3:p.W149R

Associated Papers

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2022

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR et al.

Plos One, 2011

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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."