Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_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." NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_assertion evidence source_evidence_literature NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_assertion SIO_000772 21954287 NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_assertion wasDerivedFrom befree-20140225 NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_assertion wasGeneratedBy ECO_0000203 NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP542316.RAcgc7ahOwPc15o8IK5HUhW2rIPOm6lFEV21jsbw8moXA130_provenance.