Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion type Assertion NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_head.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion description "[An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_provenance.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion evidence source_evidence_literature NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_provenance.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion SIO_000772 16671097 NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_provenance.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion wasDerivedFrom befree-20150227 NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_provenance.
- NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_assertion wasGeneratedBy ECO_0000203 NP617195.RAe8ugmGBk8o670FVtB0sK8VZH7IWq-xaJ0MUjFZ03vUk130_provenance.