Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.W196R
Back to variants list

ENG

NM_001114753.3:p.W196R

Associated Papers

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Kitayama K et al.

Bmc Medical Genomics, 2021

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Bayrak-Toydemir P et al.

Experimental and Molecular Pathology, 2008

Identifying common genetic variants by high-resolution melting.

Vandersteen JG et al.

Clinical Chemistry, 2007

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL et al.

Journal of Medical Genetics, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."