Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q56*
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ENG

NM_001114753.3:p.Q56*

Associated Papers

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.

Kim D et al.

Neurointervention, 2019

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

Bossler AD et al.

Human Mutation, 2006

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

Argyriou L et al.

International Journal of Molecular Medicine, 2006

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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."