Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.Y286*
Back to variants list

ACVRL1

NM_000020.3:p.Y286*

Associated Papers

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C et al.

Journal of Human Genetics, 2007

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G et al.

Human Mutation, 2006

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM et al.

Human Mutation, 2006

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

Letteboer TG et al.

Human Genetics, 2005

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

Olivieri C et al.

Journal of Medical Genetics, 2002

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."