Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion> ?p ?o ?g. }
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- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion type Assertion NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_head.
- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_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." NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_provenance.
- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion evidence source_evidence_literature NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_provenance.
- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion SIO_000772 21214877 NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_provenance.
- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion wasDerivedFrom befree-20140225 NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_provenance.
- NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_assertion wasGeneratedBy ECO_0000203 NP710881.RAfV4K2UPWELs-y57Qq10WV1t0Ru9AWpmYGXlDXJzP5Ss130_provenance.