Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion description "[The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion evidence source_evidence_literature NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion SIO_000772 17387722 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion wasDerivedFrom befree-20140225 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion wasGeneratedBy ECO_0000203 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.