Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion description "[A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion evidence source_evidence_curated NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion SIO_000772 10721678 NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion wasDerivedFrom uniprot-20130724 NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion wasGeneratedBy ECO_0000218 NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.