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- source_evidence_literature type ECO_0000212 NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_assertion description "[The novel nicotinic acetylcholine receptor (nAChR) mutation ?C418W, the first lipid-exposed mutation identified in a patient that causes slow channel congenital myasthenia syndrome was shown to be cholesterol-sensitive and to accumulate in microdomains rich in the membrane raft marker protein caveolin-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_assertion evidence source_evidence_literature NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_assertion SIO_000772 26354438 NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_assertion wasDerivedFrom befree-2016 NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_assertion wasGeneratedBy ECO_0000203 NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1293895.RAgaxpWwsxQmtqqujRKYCXmUxFRadjrMN2NV8TiQ-yLoA130_provenance.