Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion> ?p ?o ?g. }
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- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion type Assertion NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_head.
- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion description "[A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_provenance.
- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion evidence source_evidence_literature NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_provenance.
- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion SIO_000772 15953877 NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_provenance.
- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion wasDerivedFrom befree-2016 NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_provenance.
- NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_assertion wasGeneratedBy ECO_0000203 NP499299.RAqJZ3qx26llqlfmjBSy3bbaj7XFC3hn3-KDHYnmJAJqY130_provenance.