Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion> ?p ?o ?g. }
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- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion type Assertion NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_head.
- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion description "[We report the case of a 6-year-old boy with typical electrophysiology findings of KCNV2 retinopathy but with abnormal cone dysfunction compared to other patients with mutations in KCNV2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_provenance.
- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion evidence source_evidence_literature NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_provenance.
- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion SIO_000772 24210337 NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_provenance.
- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion wasDerivedFrom befree-2016 NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_provenance.
- NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_assertion wasGeneratedBy ECO_0000203 NP1126523.RAufajHZ9iP4MUzUhB1-4gdrIcMXjrIED8YzTOglKSowA130_provenance.