Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion> ?p ?o ?g. }
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- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion type Assertion NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_head.
- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_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." NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_provenance.
- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion evidence source_evidence_literature NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_provenance.
- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion SIO_000772 23298686 NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_provenance.
- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion wasDerivedFrom befree-20150227 NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_provenance.
- NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_assertion wasGeneratedBy ECO_0000203 NP415292.RAcdd23N8-Q-zjjev-Mfb4B1VkX8C0zlm85jTgzkHWy9A130_provenance.