Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion> ?p ?o ?g. }
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- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion type Assertion NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_head.
- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_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." NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_provenance.
- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion evidence source_evidence_literature NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_provenance.
- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion SIO_000772 15049943 NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_provenance.
- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion wasDerivedFrom befree-20140225 NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_provenance.
- NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_assertion wasGeneratedBy ECO_0000203 NP456195.RAQLfoEhw0wc80FB3pfFIAjXY--buFLztj_UtycRTTrFM130_provenance.