Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A378_H379Splc
Back to variants list

ENG

NM_001114753.3:p.A378_H379Splc

Associated Papers

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

Kitayama K et al.

Bmc Medical Genomics, 2021

Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.

Thomas B et al.

European Journal of Clinical Investigation, 2007

Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1.

Letarte M et al.

Cardiovascular Research, 2005

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA et al.

Human Mutation, 2005

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."