Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion> ?p ?o ?g. }
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- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion type Assertion NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_head.
- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion description "[Defective function of glucose-6-phosphatase, catalytic subunit 3, underlies a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_provenance.
- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion evidence source_evidence_literature NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_provenance.
- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion SIO_000772 19118303 NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_provenance.
- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion wasDerivedFrom befree-20140225 NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_provenance.
- NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_assertion wasGeneratedBy ECO_0000203 NP509471.RAmHROBVA8OLvYVRPH-Lofj2uuZaFh-dRtXbVYxqPKWh0130_provenance.