Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G154delFs
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ENG

NM_001114753.3:p.G154delFs

Associated Papers

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.

Yuan J et al.

Thrombosis Research, 2024

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

Abdalla SA et al.

Journal of Medical Genetics, 2006

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G et al.

Human Mutation, 2004

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."