Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion> ?p ?o ?g. }
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- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion type Assertion NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_head.
- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion description "[Mutations in endoglin and activin receptor-like kinase 1 (ALK1), an endothelial specific TGF-beta type I receptor, have been linked to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_provenance.
- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion evidence source_evidence_literature NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_provenance.
- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion SIO_000772 18283546 NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_provenance.
- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion wasDerivedFrom befree-20140225 NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_provenance.
- NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_assertion wasGeneratedBy ECO_0000203 NP894481.RAu5QSKFhGeOr9rXwmEC0RyS-PnWcIwQCkTKH3FqWe0BU130_provenance.