Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_assertion wasGeneratedBy ECO_0000203 NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_assertion wasDerivedFrom befree-2016 NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_assertion SIO_000772 2295701 NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_assertion evidence source_evidence_literature NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.
- NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_assertion description "[Our analysis of individuals with OI type I from 20 families indicates that this is a unique mutation and suggests that the phenotype can result from multiple mechanisms that decrease the synthesis of normal type I procollagen molecules, including those that alter protein stability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011028.RAi6LOSfmTkA_OJwK_XNodba8uD10QM91eT-fjSa9RTD0130_provenance.