Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion> ?p ?o ?g. }
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- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion type Assertion NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_head.
- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_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." NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_provenance.
- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion evidence source_evidence_literature NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_provenance.
- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion SIO_000772 23947751 NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_provenance.
- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion wasDerivedFrom befree-20140225 NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_provenance.
- NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_assertion wasGeneratedBy ECO_0000203 NP885791.RAA_X0dd82tRg3inZ1xF-YgprkdfrPS9Qx5_vCRb8FWi0130_provenance.