Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C30R
Back to variants list

ENG

NM_001114753.3:p.C30R

Associated Papers

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Sánchez-Duffhues G et al.

Cells, 2023

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K et al.

Clinical Genetics, 2016

Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia.

Zhou F et al.

Pulmonary Circulation, 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."