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- source_evidence_literature type ECO_0000212 NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion description "[Pregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion evidence source_evidence_literature NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion SIO_000772 18005052 NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion wasDerivedFrom befree-20150227 NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion wasGeneratedBy ECO_0000203 NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_provenance.