Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion> ?p ?o ?g. }
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- NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_assertion type Assertion NP246953.RA1JLXIj4y3Lku8vuccAMqPw7O8uaVC0ttsIHfXASj2bI130_head.
- 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.