Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_assertion description "[In the present work, we identified four distinct mutations in PEX26 from five patients of CG8 PBD including 2 with ZS and 3 with IRD, in addition to 7 mutant alleles in 8 patients in the first report describing the pathogenic PEX26 gene for CG8 PBD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_assertion evidence source_evidence_literature NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_assertion SIO_000772 16257970 NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_assertion wasDerivedFrom befree-20140225 NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_assertion wasGeneratedBy ECO_0000203 NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP469251.RAoqDcggPEocm1OlA0Cs_c3q9RdMBuiJjsdKnkLd97luU130_provenance.