Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_assertion description "[Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_assertion evidence source_evidence_literature NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_assertion SIO_000772 22770980 NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_assertion wasDerivedFrom befree-20140225 NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_assertion wasGeneratedBy ECO_0000203 NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP544426.RAJAptIDvmRcPhs6D0ZoZAH673v3WvF41_Y60pqxpDxm4130_provenance.