Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_assertion description "[The vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT) is in general an inherited disease caused by mutations in the TGF-?/BMP receptors endoglin or ALK1 or in rare cases by mutations of the TGF-? signal transducer protein Smad4 leading to the combined syndrome of juvenile polyposis and HHT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_assertion evidence source_evidence_literature NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_assertion SIO_000772 23805858 NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_assertion wasDerivedFrom befree-20140225 NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_assertion wasGeneratedBy ECO_0000203 NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP853528.RA-3AabI2Xftq4jnHppdfkjZKLvjBN3HN77UEQp9yUII0130_provenance.