Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_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." NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_assertion evidence source_evidence_literature NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_assertion SIO_000772 23456229 NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_assertion wasDerivedFrom befree-20140225 NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_assertion wasGeneratedBy ECO_0000203 NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.
- befree-20140225 importedOn "2014-02-25" NP703351.RAMED1Vniw-6jKG1-4FXVL1wuL_2Pymg6y6QuxKStoX0o130_provenance.