Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion> ?p ?o ?g. }
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- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion type Assertion NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_head.
- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion description "[We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1A and PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_provenance.
- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion evidence source_evidence_literature NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_provenance.
- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion SIO_000772 22993021 NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_provenance.
- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion wasDerivedFrom befree-20140225 NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_provenance.
- NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_assertion wasGeneratedBy ECO_0000203 NP482391.RApANzY9Dkrefd2hVGyYmWBTh2QB5DBWPekkAK44xwjuY130_provenance.