Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion> ?p ?o ?g. }
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- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion type Assertion NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_head.
- 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.
- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion evidence source_evidence_literature NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_provenance.
- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion SIO_000772 19307143 NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_provenance.
- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion wasDerivedFrom befree-20140225 NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_provenance.
- NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_assertion wasGeneratedBy ECO_0000203 NP828756.RAdV2abaAhTqQ1khLARcrCIc5_4TzgH0G0IUYRzcXYRow130_provenance.