Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion wasGeneratedBy ECO_0000203 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion wasDerivedFrom befree-20150227 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion SIO_000772 17056637 NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion evidence source_evidence_literature NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.
- NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_assertion description "[Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948955.RAYZEFSKLY_xJ_rTduOvWdFFJvHR9GO9d4yIXC13g6KbA130_provenance.