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- source_evidence_literature type ECO_0000212 NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_assertion wasGeneratedBy ECO_0000203 NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_assertion wasDerivedFrom befree-20150227 NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_assertion SIO_000772 17509612 NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_assertion evidence source_evidence_literature NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.
- NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_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." NP928917.RAWcC1RHKzlODcrNVqYE1te1CZ_o8QbfkbPNJEd11unSI130_provenance.