Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_assertion description "[Here, we report the molecular defects underlying sialidosis (mutations in sialidase; gene NEU1), galactosialidosis (mutations in cathepsin A; gene PPGB) and GM1 gangliosidosis (mutations in ?-galactosidase; gene GLB1) in Portuguese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_assertion evidence source_evidence_literature NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_assertion SIO_000772 21214877 NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_assertion wasDerivedFrom befree-20140225 NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_assertion wasGeneratedBy ECO_0000203 NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP570948.RAIKWbdWcIB8UNex5d2FG5yeyAKTxrfMNrGC_DqznsT5c130_provenance.