Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion> ?p ?o ?g. }
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- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion type Assertion NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_head.
- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion description "[FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_provenance.
- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion evidence source_evidence_literature NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_provenance.
- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion SIO_000772 14663834 NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_provenance.
- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion wasDerivedFrom befree-20140225 NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_provenance.
- NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_assertion wasGeneratedBy ECO_0000203 NP154295.RAF7cFSA5Z7PguCsXy-H_UckSWCKCafUYOa874n1Oucrs130_provenance.