Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion type Assertion NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_head.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion description "[The lipoprotein lipase coding gene sequence was analysed on a 10-year-old girl with new-onset Type 1 diabetes mellitus (DM), ketoacidosis and severe hypertriglyceridaemia (TG > 112.9 mmol/l), revealing that the patient was a compound heterozygote for two mutations, D9N in exon 2 and S447X in exon 9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_provenance.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion evidence source_evidence_literature NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_provenance.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion SIO_000772 15049943 NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_provenance.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion wasDerivedFrom befree-20150227 NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_provenance.
- NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_assertion wasGeneratedBy ECO_0000203 NP539211.RAVdzoFnVXV1BCHugNiPpyJDuydS0r2ekuVdBWscLyh6o130_provenance.