Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_assertion description "[Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_assertion evidence source_evidence_curated NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_assertion SIO_000772 10852465 NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_assertion wasDerivedFrom uniprot-20130724 NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_assertion wasGeneratedBy ECO_0000218 NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6381.RAt6WMBcJUrUFabYVCfiL5wZqkADi_xneRLHZ5isv01mg130_provenance.