Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion> ?p ?o ?g. }
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- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion type Assertion NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_head.
- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion description "[Additionally a missense mutation was identified in a highly conserved position of the OCRL gene, which causes Lowe Syndrome and Dent Disease 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_provenance.
- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion evidence source_evidence_literature NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_provenance.
- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion SIO_000772 23947751 NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_provenance.
- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion wasDerivedFrom befree-2016 NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_provenance.
- NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_assertion wasGeneratedBy ECO_0000203 NP1102613.RAoWl_0bvTo7cbyjHedL5nhQFdYgo0ar6vZKflbLY0w2s130_provenance.