Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_assertion description "[Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_assertion evidence source_evidence_curated NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_assertion SIO_000772 17620573 NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_assertion wasDerivedFrom uniprot-2016 NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_assertion wasGeneratedBy ECO_0000218 NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5043.RA94oPlu784-fRcxmsKUj21llQellZ33G4T1dcDpuFnAg130_provenance.