Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion> ?p ?o ?g. }
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- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion type Assertion NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_head.
- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion description "[Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance.
- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion evidence source_evidence_curated NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance.
- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion SIO_000772 10571954 NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance.
- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion wasDerivedFrom uniprot-20130724 NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance.
- NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_assertion wasGeneratedBy ECO_0000218 NP240.RAjVgEz8LMuSXQ-wB0dAPGXWKZd3_2z777LclcYKJZqPc130_provenance.