Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_assertion wasGeneratedBy ECO_0000203 NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_assertion wasDerivedFrom befree-20140225 NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_assertion SIO_000772 19762329 NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_assertion evidence source_evidence_literature NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_assertion description "[LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP176857.RAVrdkI9FdAV0KRFCTaDQvYBH4NAJVXrIsq50c1ioGBZo130_provenance.