Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S50S
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ENG

NM_001114753.3:p.S50S

Associated Papers

Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.

Thomas B et al.

European Journal of Clinical Investigation, 2007

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G et al.

Human Mutation, 2006

Disease-associated mutations in conserved residues of ALK-1 kinase domain.

Abdalla SA et al.

European Journal of Human Genetics : Ejhg, 2003

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

Abdalla SA et al.

Human Molecular Genetics, 2000

Genetic abnormalities in hereditary hemorrhagic telangiectasia.

Marchuk DA

Current Opinion in Hematology, 1998

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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."