Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_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." NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_assertion evidence source_evidence_literature NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_assertion SIO_000772 20591486 NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_assertion wasDerivedFrom gad-20130706 NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_assertion wasGeneratedBy ECO_0000203 NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.
- gad-20130706 importedOn "2013-07-06" NP52243.RAXVfJS1bLt9EQVqINfozWmwfKxW2pCmncD_mFtrawnw0130_provenance.