Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_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." NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_assertion evidence source_evidence_literature NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_assertion SIO_000772 20591486 NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_assertion wasDerivedFrom gad-20130706 NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_assertion wasGeneratedBy ECO_0000203 NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.
- gad-20130706 importedOn "2013-07-06" NP68443.RAmyv2q5sEJI6ltme_Beet1fOin3ZtoAU0Iq64m7HTuTk130_provenance.