Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_assertion description "[We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_assertion evidence source_evidence_literature NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_assertion SIO_000772 14608646 NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_assertion wasDerivedFrom befree-2016 NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_assertion wasGeneratedBy ECO_0000203 NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.
- befree-2016 importedOn "2016-02-19" NP420008.RAmG_YRof84aJqtAFPLojgvG4YOWauRJCRhOyl_dKjKIM130_provenance.