Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_assertion description "[Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_assertion evidence source_evidence_literature NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_assertion SIO_000772 24009312 NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_assertion wasDerivedFrom befree-20150227 NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_assertion wasGeneratedBy ECO_0000203 NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP569303.RAMYYLlK8Gt2khsuB3oK9PYTisZlclkD8iTZEZYrySMIY130_provenance.