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- source_evidence_literature type ECO_0000212 NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_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." NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_assertion evidence source_evidence_literature NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_assertion SIO_000772 22559980 NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_assertion wasDerivedFrom befree-2016 NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_assertion wasGeneratedBy ECO_0000203 NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.
- befree-2016 importedOn "2016-02-19" NP979805.RAUspSIdPihoVina9qdvpDFxTfwgCxJW25xvfDO1eF970130_provenance.