Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_assertion wasGeneratedBy ECO_0000203 NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_assertion wasDerivedFrom befree-20140225 NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_assertion SIO_000772 23643676 NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_assertion evidence source_evidence_literature NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_assertion description "[Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP699586.RAeyjvVyOzjy-XlTqt3wNrmxecqSXt5hOKFb-RKGC6tk8130_provenance.