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- source_evidence_literature type ECO_0000212 NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_assertion description "[Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich ataxia, one from a patient with Bloom syndrome, one from a patient with Down syndrome, and six from patients with various immunodeficiencies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_assertion evidence source_evidence_literature NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_assertion SIO_000772 2722185 NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_assertion wasDerivedFrom befree-2016 NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_assertion wasGeneratedBy ECO_0000203 NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1296343.RAdAF0OxDNROUttpbIjpiF-JowGY2tUm2_5LTE-umucN4130_provenance.