Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_assertion description "[A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_assertion evidence source_evidence_literature NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_assertion SIO_000772 18978954 NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_assertion wasDerivedFrom befree-20150227 NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_assertion wasGeneratedBy ECO_0000203 NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP988708.RAdmFAG52jlo62BfgwwvMGrbydurTGeqLVqlVAKpM231s130_provenance.