Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion description "[Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral body abnormalities (platyspondyly, end-plate indentations), hip dysplasia and brachydactyly type E. Here, we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen in an affected Chinese individual with SPD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion evidence source_evidence_literature NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion SIO_000772 23545312 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion wasDerivedFrom befree-20140225 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_assertion wasGeneratedBy ECO_0000203 NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP419227.RA_fr0gnxVuPMRFjXG6YqMCSubCEYcxggQ2874wCowfNk130_provenance.