Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_assertion description "[Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_assertion evidence source_evidence_literature NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_assertion SIO_000772 10486316 NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_assertion wasDerivedFrom befree-20140225 NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_assertion wasGeneratedBy ECO_0000203 NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP500225.RA8FYyvTvtEYnb89J9uJz_Tfv9taORstGffr6Q20l7KAo130_provenance.