Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.R149S
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INHBE

NM_031479.5:p.R149S

Associated Papers

Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

Bourdeau A et al.

The American Journal of Pathology, 2000

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.

Shovlin CL et al.

Thorax, 1999

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Gallione CJ et al.

Human Mutation, 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."