Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_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." NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion evidence source_evidence_literature NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion SIO_000772 17387722 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion wasDerivedFrom befree-2016 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion wasGeneratedBy ECO_0000203 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- befree-2016 importedOn "2016-02-19" NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.