Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion> ?p ?o ?g. }
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- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion type Assertion NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_head.
- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion description "[The RP genechip provides the significant advantage of detecting novel variants and could be expected to detect at least one pathogenic variant in more than 50% of patients. The APEX array provides a reliable method to detect known pathogenic variants in autosomal recessive RP and simplex RP patients and is commercially available. High-throughput genotyping for RP is evolving into a clinically useful genetic diagnostic tool.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_provenance.
- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion evidence source_evidence_literature NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_provenance.
- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion SIO_000772 20591486 NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_provenance.
- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion wasDerivedFrom gad-20130706 NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_provenance.
- NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_assertion wasGeneratedBy ECO_0000203 NP84171.RAWJpQel7rZaz-7gVm1x8i3drBXcfpL1qiQnoHCRE7IIg130_provenance.