Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_assertion description "[Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_assertion evidence source_evidence_literature NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_assertion SIO_000772 23583054 NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_assertion wasDerivedFrom befree-20140225 NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_assertion wasGeneratedBy ECO_0000203 NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP229397.RAQx2HWkG6KfmnpSmaPco4FaKZlsTchuJyDeOr-rNhwrQ130_provenance.