Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion> ?p ?o ?g. }
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- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion type Assertion NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_head.
- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion description "[Mutations in the G6PC gene, located on chromosome 17q21, result in glycogen storage disease type Ia (GSD-Ia), an autosomal recessive metabolic disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_provenance.
- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion evidence source_evidence_literature NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_provenance.
- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion SIO_000772 18449899 NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_provenance.
- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion wasDerivedFrom befree-20150227 NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_provenance.
- NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_assertion wasGeneratedBy ECO_0000203 NP415250.RAgirUIb2F7NtvPCSdgvjB1PMUtVArEpZisNAHkEbIwcg130_provenance.