Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion> ?p ?o ?g. }
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- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion type Assertion NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_head.
- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion description "[To report novel spectral domain optical coherence tomography (SD-OCT) findings and new mutational data in patients with 'cone dystrophy with supernormal rod electroretinogram', a recessive childhood onset retinal dystrophy consequent upon mutation in the KCNV2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_provenance.
- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion evidence source_evidence_literature NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_provenance.
- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion SIO_000772 21558291 NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_provenance.
- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion wasDerivedFrom befree-2016 NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_provenance.
- NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_assertion wasGeneratedBy ECO_0000203 NP892995.RAMlrYXVmZCbIdZMn5gG2nA-Z92BZRPKwP9IckSIL6CTQ130_provenance.