Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_assertion description "[Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_assertion evidence source_evidence_literature NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_assertion SIO_000772 23456229 NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_assertion wasDerivedFrom befree-20140225 NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_assertion wasGeneratedBy ECO_0000203 NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP305595.RAhFuDk2Ds3QWEEW-CDtJylVAKKBKs99GI8kpYGaxfiwY130_provenance.