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- source_evidence_literature type ECO_0000212 NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_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." NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_assertion evidence source_evidence_literature NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_assertion SIO_000772 23805858 NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_assertion wasDerivedFrom befree-20140225 NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_assertion wasGeneratedBy ECO_0000203 NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP619472.RA12Nw6rC9DyRyASpql2yNT9eyMv6O9U-SG3NlJnl6ATk130_provenance.