Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion> ?p ?o ?g. }
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- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion type Assertion NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_head.
- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion wasGeneratedBy ECO_0000203 NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_provenance.
- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion wasDerivedFrom befree-20140225 NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_provenance.
- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion SIO_000772 23171239 NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_provenance.
- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion evidence source_evidence_literature NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_provenance.
- NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_assertion description "[Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP280664.RAtKGlh1hZEo2rdQnnAC1IKJCqKspOI_d-YjjCe0-bjH0130_provenance.