Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion> ?p ?o ?g. }
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- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion type Assertion NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_head.
- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion description "[Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_provenance.
- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion evidence source_evidence_literature NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_provenance.
- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion SIO_000772 17183586 NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_provenance.
- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion wasDerivedFrom befree-20150227 NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_provenance.
- NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_assertion wasGeneratedBy ECO_0000203 NP452499.RALb_5_DmgRmkaXXJpcmTo-6rTqsfTLvcWDyXMMZkL0Bs130_provenance.