Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_assertion wasGeneratedBy ECO_0000218 NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_assertion wasDerivedFrom uniprot-20150221 NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_assertion SIO_000772 23103230 NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_assertion evidence source_evidence_curated NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.
- NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_assertion description "[In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1575.RAGWrOXKyyQN42sA3xMhR2HnW-6g4LZPgyN1tLXhnODdg130_provenance.