Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion> ?p ?o ?g. }
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- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion type Assertion NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_head.
- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion description "[Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_provenance.
- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion evidence source_evidence_literature NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_provenance.
- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion SIO_000772 14684682 NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_provenance.
- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion wasDerivedFrom befree-2016 NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_provenance.
- NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_assertion wasGeneratedBy ECO_0000203 NP425263.RAnkhHLRU6kJJ6W3JMmC6uihmOFohajatwM5qvb868MQ4130_provenance.