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- source_evidence_literature type ECO_0000212 NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_assertion description "[All eleven RyR2 mutations cluster into 3 regions of RyR2 that are homologous to the three malignant hyperthermia (MH)/central core disease (CCD) mutation regions of the skeletal muscle ryanodine receptor/calcium release channel RyR1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_assertion evidence source_evidence_literature NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_assertion SIO_000772 11807805 NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_assertion wasDerivedFrom befree-2016 NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_assertion wasGeneratedBy ECO_0000203 NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP342998.RAVRfgWAEKEJRMA5Rlzk8k92lc-6ANm4dXhkdGoa7HqCQ130_provenance.