Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_assertion description "[The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_assertion evidence source_evidence_literature NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_assertion SIO_000772 16384941 NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_assertion wasDerivedFrom befree-20140225 NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_assertion wasGeneratedBy ECO_0000203 NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP592130.RAfoFeLQcVQZtjuMOnZ-v9r9PppfheyeZ_sNRTHanwwW4130_provenance.