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- source_evidence_literature type ECO_0000212 NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_assertion description "[We report for the first time a female patient with CCS exhibiting both EWSR1-ATF1 fusion transcripts and hereditary homozygous point mutations in introns 11 and 16 of the KIT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_assertion evidence source_evidence_literature NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_assertion SIO_000772 22559980 NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_assertion wasDerivedFrom befree-20150227 NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_assertion wasGeneratedBy ECO_0000203 NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.
- befree-20150227 importedOn "2015-02-27" NP387983.RAqyVZehNMiA6PZPYW6h17-RAUKxA30Dlw8OofBee4z38130_provenance.