Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion type Assertion NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_head.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_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." NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_provenance.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion evidence source_evidence_literature NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_provenance.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion SIO_000772 23910460 NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_provenance.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion wasDerivedFrom befree-20140225 NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_provenance.
- NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_assertion wasGeneratedBy ECO_0000203 NP372566.RA7y-z-9uG11nma1Wwwpq4CIMfD0OSpIA18Lsa3ap5oao130_provenance.