Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_assertion description "[The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_assertion evidence source_evidence_curated NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_assertion SIO_000772 11528398 NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_assertion wasDerivedFrom uniprot-2016 NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_assertion wasGeneratedBy ECO_0000218 NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1612.RATZz4C_Ev498CHaG10REhfYNMPbc2AG_P9OoVJCb-8PQ130_provenance.