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- source_evidence_literature type ECO_0000212 NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_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." NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_assertion evidence source_evidence_literature NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_assertion SIO_000772 19237502 NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_assertion wasDerivedFrom befree-20140225 NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_assertion wasGeneratedBy ECO_0000203 NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP636617.RAbKyb9bA7Xm6seNdROLayKD2pDkHl9ihY8zbuWCuXi5k130_provenance.