Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion> ?p ?o ?g. }
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- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion type Assertion NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_head.
- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_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." NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_provenance.
- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion evidence source_evidence_literature NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_provenance.
- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion SIO_000772 16773131 NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_provenance.
- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion wasDerivedFrom befree-20140225 NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_provenance.
- NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_assertion wasGeneratedBy ECO_0000203 NP712235.RAJI0gmVzy5QzZPtp54m0EAq_2rdWug1MD0nszcUf9gZ0130_provenance.