Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_assertion description "[We have therefore assessed the entire coding region of IMPG1 by exon amplification and subsequent single stranded conformational analysis in patients from 6q linked multigeneration families diagnosed with PBCRA and MCDR1, as well as a single patient from an autosomal dominant STGD pedigree unlinked to either of the two known STGD2 and STGD3 loci on chromosomes 13q and 6q, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_assertion evidence source_evidence_literature NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_assertion SIO_000772 9719369 NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_assertion wasDerivedFrom befree-20140225 NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_assertion wasGeneratedBy ECO_0000203 NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP699882.RAVXwCIMAvWs7i8TXLkf4rFeJY50QxeYe5IDWQjaYt-GY130_provenance.