Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q166fs
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ENG

NM_001114753.3:p.Q166fs

Associated Papers

The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.

Mutize TT et al.

Molecular Biology Reports, 2020

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

Abdalla SA et al.

Journal of Medical Genetics, 2006

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

Schulte C et al.

Human Mutation, 2005

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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."