Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion> ?p ?o ?g. }
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- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion type Assertion NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_head.
- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_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." NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_provenance.
- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion evidence source_evidence_literature NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_provenance.
- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion SIO_000772 20591486 NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_provenance.
- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion wasDerivedFrom gad-20130706 NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_provenance.
- NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_assertion wasGeneratedBy ECO_0000203 NP52201.RAFb5gkzZ31qfFixoPoSz52hTKXPmsjeqrmEZP6DcL0Jo130_provenance.