Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_assertion description "[Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyloepiphyseal dysplasia-like clinical disorders, whereas mutations in the fibroblast growth factor receptor 3 gene are responsible for achondroplasia, thanatophoric dysplasia, and hypochondroplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_assertion evidence source_evidence_literature NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_assertion SIO_000772 8879993 NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_assertion wasDerivedFrom befree-2016 NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_assertion wasGeneratedBy ECO_0000203 NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1360709.RAJZQV8Njl1SKUflw93cMz0_Wpg0GyaSihrck528G4mrs130_provenance.