Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L194P
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ENG

NM_001114753.3:p.L194P

Associated Papers

Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.

Thomas B et al.

European Journal of Clinical Investigation, 2007

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL et al.

Journal of Medical Genetics, 2006

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1.

Letarte M et al.

Cardiovascular Research, 2005

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U et al.

Human Mutation, 2003

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."