Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion> ?p ?o ?g. }
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- NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_assertion type Assertion NP610484.RANRRIZVdcuTtUvsl2VW767NQBuCa79Q1bBzauHLhWX7U130_head.
- 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.