Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion> ?p ?o ?g. }
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- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion type Assertion NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_head.
- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion description "[We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_provenance.
- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion evidence source_evidence_literature NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_provenance.
- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion SIO_000772 10051160 NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_provenance.
- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion wasDerivedFrom befree-2016 NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_provenance.
- NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_assertion wasGeneratedBy ECO_0000203 NP246729.RAUM8pMVMI6N9ZqXkuvvC1j1TnpqISwwUZjmtCdYa9vHQ130_provenance.