Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_assertion description "[Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_assertion evidence source_evidence_literature NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_assertion SIO_000772 21954287 NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_assertion wasDerivedFrom befree-2016 NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_assertion wasGeneratedBy ECO_0000203 NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.
- befree-2016 importedOn "2016-02-19" NP927017.RAX0C4SNQqS61hCiu2EvmRhqNY6PLnfXklUbu8iHIehhc130_provenance.