Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.T277K
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ACVRL1

NM_000020.3:p.T277K

Associated Papers

OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.

Fu Y et al.

Molecular Cell, 2021

Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.

Major T et al.

Clinical Genetics, 2016

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

Heimdal K et al.

Clinical Genetics, 2016

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J et al.

Human Genetics, 2010

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