Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_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." NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion evidence source_evidence_literature NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion SIO_000772 22770980 NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion wasDerivedFrom befree-20140225 NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion wasGeneratedBy ECO_0000203 NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_provenance.