Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion> ?p ?o ?g. }
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- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion type Assertion NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_head.
- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_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." NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_provenance.
- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion evidence source_evidence_literature NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_provenance.
- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion SIO_000772 23805858 NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_provenance.
- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion wasDerivedFrom befree-20140225 NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_provenance.
- NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_assertion wasGeneratedBy ECO_0000203 NP788716.RAQSJxSGRAuTalJC1AvlON_mxv4fJ6RGXPN7S3ZWGm3Ps130_provenance.