Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L194insFs
Back to variants list

ENG

NM_001114753.3:p.L194insFs

Associated Papers

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

Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.

Chan NL et al.

Placenta, 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."