Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion> ?p ?o ?g. }
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- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion type Assertion NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_head.
- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_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." NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_provenance.
- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion evidence source_evidence_literature NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_provenance.
- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion SIO_000772 23947751 NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_provenance.
- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion wasDerivedFrom befree-20150227 NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_provenance.
- NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_assertion wasGeneratedBy ECO_0000203 NP601628.RAwt8V4l8A66Tuy2ZEMGGOetNvDLux8WVw9ml-wuzM0tI130_provenance.