Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q166delFs
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ENG

NM_001114753.3:p.Q166delFs

Associated Papers

Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Zhao Y et al.

Molecular Genetics & Genomic Medicine, 2019

Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Govani FS et al.

Molecular Syndromology, 2013

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

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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."