Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion> ?p ?o ?g. }
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- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion type Assertion NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_head.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion description "[Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion evidence source_evidence_literature NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion SIO_000772 20493457 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion wasDerivedFrom befree-20150227 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion wasGeneratedBy ECO_0000203 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.