Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_assertion description "[In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1), and mosaicism for trisomy 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_assertion evidence source_evidence_literature NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_assertion SIO_000772 21064195 NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_assertion wasDerivedFrom befree-2016 NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_assertion wasGeneratedBy ECO_0000203 NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.
- befree-2016 importedOn "2016-02-19" NP851621.RA1vme5H06MyD_ooE0joTVkljdF-UKrwDTY7KrtouFpTY130_provenance.