Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion> ?p ?o ?g. }
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- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion type Assertion NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_head.
- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_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." NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_provenance.
- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion evidence source_evidence_literature NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_provenance.
- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion SIO_000772 18283546 NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_provenance.
- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion wasDerivedFrom befree-20140225 NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_provenance.
- NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_assertion wasGeneratedBy ECO_0000203 NP549830.RAc5aXEHvfyUmTLd0cmqzpLg30Tzi8RzThIehSqGSVE6Q130_provenance.