Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion> ?p ?o ?g. }
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- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion type Assertion NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_head.
- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_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." NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_provenance.
- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion evidence source_evidence_literature NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_provenance.
- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion SIO_000772 14663834 NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_provenance.
- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion wasDerivedFrom befree-20140225 NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_provenance.
- NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_assertion wasGeneratedBy ECO_0000203 NP794129.RAclwyDuFiFPKTeVDY5J8CSRebtmC896D5EDyTYwgKgSQ130_provenance.