Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion> ?p ?o ?g. }
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- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion type Assertion NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_head.
- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion description "[Dominantly inherited cataracts with differing clinical features were found in two families carrying different point mutations in the gene encoding lens water channel protein AQP0 (major intrinsic protein, MIP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_provenance.
- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion evidence source_evidence_literature NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_provenance.
- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion SIO_000772 11001937 NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_provenance.
- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion wasDerivedFrom befree-20140225 NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_provenance.
- NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_assertion wasGeneratedBy ECO_0000203 NP498230.RAviNI9AEh8OXUVFTSCM-qFpENhS2yBhnP9V52BoNTYfM130_provenance.