Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion> ?p ?o ?g. }
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- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion type Assertion NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_head.
- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion description "[It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinism of infancy, while activating mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_provenance.
- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion evidence source_evidence_literature NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_provenance.
- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion SIO_000772 18767144 NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_provenance.
- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion wasDerivedFrom befree-2016 NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_provenance.
- NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_assertion wasGeneratedBy ECO_0000203 NP691235.RAW-3j-C28yFcRa3qUy8PL1syvRVhyELRg02G3MDpL6xU130_provenance.