Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- befree-2016 importedOn "2016-02-19" NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_assertion wasGeneratedBy ECO_0000203 NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_assertion wasDerivedFrom befree-2016 NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_assertion SIO_000772 12112104 NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_assertion evidence source_evidence_literature NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.
- NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_assertion description "[The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP360454.RACjYnmU3PL0pri5Vh_HZcAMiZinq5SkSMLfr3GeEjhGo130_provenance.