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- source_evidence_literature type ECO_0000212 NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_assertion description "[These results demonstrate that CASQ1 deficiency alters proper control of RYR1 function and suggest CASQ1 as a potential candidate gene for linkage analysis in families with MH/EHS where mutations in the RYR1 gene are excluded.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_assertion evidence source_evidence_literature NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_assertion SIO_000772 19237502 NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_assertion wasDerivedFrom befree-20150227 NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_assertion wasGeneratedBy ECO_0000203 NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP282596.RAgo83Pd48TkcAUSnxF0MwCobCL3smh-FuTz33_MPA23M130_provenance.