Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_assertion description "[Ophthalmic findings were present in 3 of the 4 siblings with ECEL1-related distal arthrogryposis: bilateral ptosis with bilateral congenital fibrosis of the extraocular muscles, right ptosis with ipsilateral Y exotropia (exotropia increasing in upgaze), and right ptosis with ipsilateral Duane retraction syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_assertion evidence source_evidence_literature NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_assertion SIO_000772 25173900 NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_assertion wasDerivedFrom befree-2016 NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_assertion wasGeneratedBy ECO_0000203 NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215291.RAEKBP9xpWBULhQK9hkpzvSFydrWRKcW6lLvPvaDQLxSE130_provenance.