Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.N121fs
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ENG

NM_001114753.3:p.N121fs

Associated Papers

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Bayrak-Toydemir P et al.

American Journal of Medical Genetics. Part A, 2006

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

Abdalla SA et al.

Journal of Medical Genetics, 2006

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U et al.

Human Mutation, 2003

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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."