Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion> ?p ?o ?g. }
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- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion type Assertion NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_head.
- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion wasGeneratedBy ECO_0000203 NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_provenance.
- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion wasDerivedFrom lhgdn-20090331 NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_provenance.
- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion SIO_000772 16332676 NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_provenance.
- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion evidence source_evidence_literature NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_provenance.
- NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_assertion description "[identification of a novel KCNJ11 mutation associated with congenital hyperinsulinism that renders a missense mutation, F55L, in the Kir6.2 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP214518.RAh5t7VKAle2pSDVO9KCFu8sf74nrRtmBsp9nVVFvzrhg130_provenance.