Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R199insFs
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ENG

NM_001114753.3:p.R199insFs

Associated Papers

Identifying common genetic variants by high-resolution melting.

Vandersteen JG et al.

Clinical Chemistry, 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

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."