Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion description "[Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss and biochemical changes, more severe intellectual impairment, and more severe cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion evidence source_evidence_literature NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion SIO_000772 21126715 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion wasDerivedFrom befree-20140225 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_assertion wasGeneratedBy ECO_0000203 NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP184638.RAaLA1Pxzdx7WFXdYZS6F9oZI2kpJuav3wNmHc0tO-wtI130_provenance.