Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion> ?p ?o ?g. }
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- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion type Assertion NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_head.
- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_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." NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_provenance.
- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion evidence source_evidence_literature NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_provenance.
- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion SIO_000772 15049943 NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_provenance.
- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion wasDerivedFrom befree-2016 NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_provenance.
- NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_assertion wasGeneratedBy ECO_0000203 NP437522.RAaxivwocFzswbELpHXr1GWKTsMw8P3wVcxZng0S0Vqm4130_provenance.