Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.W50*
Back to variants list

ACVRL1

NM_000020.3:p.W50*

Associated Papers

Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.

Sankelo M et al.

Acta Oto-laryngologica, 2008

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

Kuehl HK et al.

Human Mutation, 2005

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG et al.

Human Genetics, 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."