Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- befree-2016 importedOn "2016-02-19" NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion wasGeneratedBy ECO_0000203 NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion wasDerivedFrom befree-2016 NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion SIO_000772 17509612 NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion evidence source_evidence_literature NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.
- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion description "[The molecular and functional evidence implicates defective junctophilin-2 and disrupted calcium signaling as a novel pathogenic mechanism for HCM and establishes HCM as the first human disease associated with genetic defects in JPH2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_provenance.