Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion> ?p ?o ?g. }
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- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion type Assertion NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_head.
- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion description "[The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_provenance.
- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion evidence source_evidence_literature NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_provenance.
- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion SIO_000772 23298686 NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_provenance.
- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion wasDerivedFrom befree-20140225 NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_provenance.
- NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_assertion wasGeneratedBy ECO_0000203 NP649059.RAZ0-dV0dK5wyJ-BI-2_kCEIp8XH1Q1FBivhtk-HYjvvU130_provenance.