Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion wasGeneratedBy ECO_0000218 NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion wasDerivedFrom uniprot-20130724 NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion SIO_000772 15036333 NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion evidence source_evidence_curated NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_assertion description "[A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4121.RAQu4g0V3zEkEZDQaLsYqvBEp646xu950T6iTM4Inl3Wo130_provenance.