Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion> ?p ?o ?g. }
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- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion type Assertion NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_head.
- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_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." NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_provenance.
- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion evidence source_evidence_literature NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_provenance.
- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion SIO_000772 16773131 NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_provenance.
- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion wasDerivedFrom befree-2016 NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_provenance.
- NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_assertion wasGeneratedBy ECO_0000203 NP554499.RAa-I_hqaA5Zr8T5yccXZCxLE5WqlFsu3H6Puxwp4CgVA130_provenance.