Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion> ?p ?o ?g. }
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- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion type Assertion NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_head.
- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_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." NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_provenance.
- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion evidence source_evidence_literature NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_provenance.
- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion SIO_000772 18283546 NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_provenance.
- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion wasDerivedFrom befree-20150227 NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_provenance.
- NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_assertion wasGeneratedBy ECO_0000203 NP222407.RARF3UuNoneOgL7yKg3g1k-DwYE1FJOLmnvhnH4ReeuHY130_provenance.