Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion description "[In this series, we found a 5q35 deletion removing the NSD1 gene in a patient with severe epilepsy, profound MR and, retrospectively, craniofacial features of Sotos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion evidence source_evidence_literature NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion SIO_000772 16773131 NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion wasDerivedFrom befree-2016 NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion wasGeneratedBy ECO_0000203 NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.
- befree-2016 importedOn "2016-02-19" NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_provenance.