Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion> ?p ?o ?g. }
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- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion type Assertion NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_head.
- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_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." NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_provenance.
- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion evidence source_evidence_literature NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_provenance.
- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion SIO_000772 21214877 NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_provenance.
- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion wasDerivedFrom befree-2016 NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_provenance.
- NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_assertion wasGeneratedBy ECO_0000203 NP863809.RAmNuaX8F1cIee5POxOkeQMhzj_VLJUcg4sJTK5Et-DbQ130_provenance.