Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion> ?p ?o ?g. }
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- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion type Assertion NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_head.
- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_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." NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_provenance.
- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion evidence source_evidence_literature NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_provenance.
- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion SIO_000772 14663834 NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_provenance.
- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion wasDerivedFrom befree-2016 NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_provenance.
- NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_assertion wasGeneratedBy ECO_0000203 NP423767.RAUypWNihNN590JFLzkJQuPf7eqNxrOk7rAOP4NPRy4mY130_provenance.