Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion description "[Mutations in SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion evidence source_evidence_literature NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion SIO_000772 17273969 NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion wasDerivedFrom lhgdn-20090331 NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_assertion wasGeneratedBy ECO_0000203 NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP126817.RAZWxcrg4L6p-G2b5_mHP3Kqe8_VsfS22S3c8XaSOCgK0130_provenance.