Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_assertion description "[We have identified a point mutation in one alpha 1(I) collagen allele (COL1A1) of a child with the type IV osteogenesis imperfecta phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_assertion evidence source_evidence_literature NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_assertion SIO_000772 2745420 NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_assertion wasDerivedFrom befree-20140225 NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_assertion wasGeneratedBy ECO_0000203 NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.
- befree-20140225 importedOn "2014-02-25" NP621142.RAjYVgzpT6ctyYitKYAzwudHkrJK9620pe1slN-UAdKus130_provenance.