Matches in Nanopublications for { ?s ?p "[They had mixed hyperlipidemia, hepatosplenomegaly, reduced LAL activity (approximately 5% of control) and heteroalleic mutations in LIPA gene coding sequence: (i) the common c.894 G>A mutation and (ii) a novel nonsense mutation c.652 C>T (p.R218X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion description "[They had mixed hyperlipidemia, hepatosplenomegaly, reduced LAL activity (approximately 5% of control) and heteroalleic mutations in LIPA gene coding sequence: (i) the common c.894 G>A mutation and (ii) a novel nonsense mutation c.652 C>T (p.R218X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_provenance.
- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion description "[They had mixed hyperlipidemia, hepatosplenomegaly, reduced LAL activity (approximately 5% of control) and heteroalleic mutations in LIPA gene coding sequence: (i) the common c.894 G>A mutation and (ii) a novel nonsense mutation c.652 C>T (p.R218X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_provenance.