Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion> ?p ?o ?g. }
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- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion type Assertion NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_head.
- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion description "[A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_provenance.
- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion evidence source_evidence_literature NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_provenance.
- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion SIO_000772 18978954 NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_provenance.
- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion wasDerivedFrom befree-2016 NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_provenance.
- NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_assertion wasGeneratedBy ECO_0000203 NP701249.RAb_WjQevqXv95GcyUtvzy-1ltYb1_8T38L8j9j1y3qK4130_provenance.