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- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion type Assertion NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_head.
- 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.
- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion evidence source_evidence_literature NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_provenance.
- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion SIO_000772 19307143 NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_provenance.
- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion wasDerivedFrom befree-20140225 NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_provenance.
- NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_assertion wasGeneratedBy ECO_0000203 NP643924.RACd2OE4v9Q4QLsR-yl9Xdtt_26UrDj2DGvbJRx1TS9eg130_provenance.