Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion> ?p ?o ?g. }
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- NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_assertion type Assertion NP554497.RARX8HrNvu_13MMT2JGd1cfY-WaZEtRngh_-swW7wwkvg130_head.
- 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.