Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1017763.RACZvAXXW0VtP80rlQo_r0MxiRWB5hZsbST7yMBa8U9xQ#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18283546 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.