Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion> ?p ?o ?g. }
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- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion type Assertion NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_head.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion description "[Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion evidence source_evidence_curated NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion SIO_000772 16648378 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion wasDerivedFrom uniprot-20130724 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion wasGeneratedBy ECO_0000218 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.