Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_assertion description "[Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_assertion evidence source_evidence_literature NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_assertion SIO_000772 19378506 NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_assertion wasDerivedFrom befree-20140225 NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_assertion wasGeneratedBy ECO_0000203 NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP639076.RAg4ZpnKvgkZ4frIOCF1WEY8zADyPxE40RTEdbv6MjYfs130_provenance.