Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion> ?p ?o ?g. }
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- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion type Assertion NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_head.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion description "[A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion evidence source_evidence_curated NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion SIO_000772 9621520 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion wasDerivedFrom uniprot-20130724 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion wasGeneratedBy ECO_0000218 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.