Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_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." NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_assertion evidence source_evidence_literature NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_assertion SIO_000772 20591486 NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_assertion wasDerivedFrom gad-20130706 NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_assertion wasGeneratedBy ECO_0000203 NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.
- gad-20130706 importedOn "2013-07-06" NP84552.RAR3rfgxu7O97agmGQFtdbi4o2tnI12Mb6BK8PqTv0-xk130_provenance.