Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_assertion description "[Recently, a mutation in the pantothenate kinase (PANK2) gene on band 20pl3 has been described in patients with typical HSD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_assertion evidence source_evidence_curated NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_assertion SIO_000772 14580665 NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_assertion wasDerivedFrom ctd_human-20150221 NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_assertion wasGeneratedBy ECO_0000218 NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP25102.RA0Nlq8XLkyTIVHRTXKuf6E5PbTpUV_NG5Xn7zDQ_372I130_provenance.