Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_assertion wasGeneratedBy ECO_0000203 NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_assertion wasDerivedFrom befree-20140225 NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_assertion SIO_000772 11558903 NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_assertion evidence source_evidence_literature NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_assertion description "[Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP587595.RAYjse4BDK_4m1UE_LQudbIVROF_UgmAtGL7k7X9R2iCs130_provenance.