Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion> ?p ?o ?g. }
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- NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_assertion type Assertion NP810512.RANxO1snRROzVNMVfNOjmhiLYf6eEUiyhc7CwsyqcO3QY130_head.
- 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.