Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L67F
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ENG

NM_001114753.3:p.L67F

Associated Papers

Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

Kim BG et al.

Clinical and Experimental Otorhinolaryngology, 2021

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.

Kim D et al.

Neurointervention, 2019

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

Chen YJ et al.

European Journal of Clinical Investigation, 2013

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J et al.

Human Genetics, 2010

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Lesca G et al.

European Journal of Human Genetics : Ejhg, 2008

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C et al.

Journal of Human Genetics, 2007

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

van den Driesche S et al.

Cardiovascular Research, 2003

A rare cause of fatal right ventricular cardiac decompensation.

Samol A et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 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."