Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion> ?p ?o ?g. }
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- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion type Assertion NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_head.
- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion wasGeneratedBy ECO_0000218 NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_provenance.
- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion wasDerivedFrom uniprot-2016 NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_provenance.
- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion SIO_000772 8728326 NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_provenance.
- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion evidence source_evidence_curated NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_provenance.
- NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_assertion description "[Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9089.RAAp---PeQiOmc6-nGGt5VGchpmZ4F6Ve6ktfGUJiNgas130_provenance.