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- source_evidence_literature type ECO_0000212 NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_assertion description "[Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and muscular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_assertion evidence source_evidence_literature NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_assertion SIO_000772 25137640 NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_assertion wasDerivedFrom befree-2016 NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_assertion wasGeneratedBy ECO_0000203 NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1211993.RALyRm7MJXQKCiveISQN0lEUP6kLEsezETDFfmvm2D1jg130_provenance.