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- source_evidence_literature type ECO_0000212 NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion description "[In conclusion, the case described here suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion evidence source_evidence_literature NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion SIO_000772 25714420 NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion wasDerivedFrom befree-2016 NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_assertion wasGeneratedBy ECO_0000203 NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266245.RA1b6SXSwama313WQNn_ErZpFXSGpF6hU9hFocwtZATLQ130_provenance.