Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion> ?p ?o ?g. }
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- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion type Assertion NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_head.
- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion description "[A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_provenance.
- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion evidence source_evidence_literature NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_provenance.
- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion SIO_000772 16613899 NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_provenance.
- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion wasDerivedFrom befree-2016 NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_provenance.
- NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_assertion wasGeneratedBy ECO_0000203 NP544830.RAjNQgDP64whRLr7p7OB4rGiMsM2K-uR2qDxC11NbqZpo130_provenance.