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- source_evidence_literature type ECO_0000212 NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_assertion description "[Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_assertion evidence source_evidence_literature NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_assertion SIO_000772 15921228 NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_assertion wasDerivedFrom befree-2016 NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_assertion wasGeneratedBy ECO_0000203 NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.
- befree-2016 importedOn "2016-02-19" NP496787.RAMYYK19BdSkgsZ80B6Jkg2eRUxa5Y8C91Sr2euIPWcI8130_provenance.