Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion> ?p ?o ?g. }
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- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion type Assertion NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_head.
- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion description "[Missense mutations in the presenilin 1 (PS1) gene cause the most common form of dominant early-onset familial Alzheimer's disease (FAD) and are associated with increased levels of amyloid beta-peptides (A beta) ending at residue 42 (A beta 42) in plasma and skin fibroblast media of gene carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_provenance.
- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion evidence source_evidence_literature NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_provenance.
- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion SIO_000772 8837617 NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_provenance.
- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion wasDerivedFrom befree-20140225 NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_provenance.
- NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_assertion wasGeneratedBy ECO_0000203 NP540004.RAQDZl9qcr2lnqIXxXxFGXh19pNqEt1f93-BdmhpFEG6I130_provenance.