Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_assertion description "[The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_assertion evidence source_evidence_curated NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_assertion SIO_000772 10369742 NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_assertion wasDerivedFrom uniprot-20150221 NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_assertion wasGeneratedBy ECO_0000218 NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2276.RAEBKGBJj5Hh3vckRWIXb_O6OOgcmZD9K9SMTTVWfYQQI130_provenance.