Varaico: Literature-Extracted Genetic Variants

Gene:PECAM1
Variant:p.R149S
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PECAM1

NM_000442.5: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

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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."