Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G52D
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ENG

NM_001114753.3:p.G52D

Associated Papers

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Kitayama K et al.

Bmc Medical Genomics, 2021

34872578 (PubMed )
Supplement: 12920_2021_1139_MOESM1_ESM.xlsx › ENG

Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.

Saito T et al.

Cell Reports, 2017

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

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.

van den Driesche S et al.

Cardiovascular Research, 2003

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Paquet ME et al.

Human Molecular Genetics, 2001

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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