Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion> ?p ?o ?g. }
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- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion type Assertion NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_head.
- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion description "[Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_provenance.
- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion evidence source_evidence_literature NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_provenance.
- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion SIO_000772 23910460 NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_provenance.
- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion wasDerivedFrom befree-20150227 NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_provenance.
- NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_assertion wasGeneratedBy ECO_0000203 NP511172.RA0EwhxU02i29M1TEtZjv6XCknAwfPp4emdmfe1Vd3FlQ130_provenance.