Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion> ?p ?o ?g. }
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- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion type Assertion NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_head.
- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_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." NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_provenance.
- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion evidence source_evidence_literature NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_provenance.
- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion SIO_000772 18283546 NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_provenance.
- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion wasDerivedFrom befree-2016 NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_provenance.
- NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_assertion wasGeneratedBy ECO_0000203 NP656158.RAy-0MkDQDK7kKGUvmXc8sKXUIisKwCA-HIDRQX9iHYOY130_provenance.