Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion> ?p ?o ?g. }
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- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion type Assertion NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_head.
- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion description "[Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_provenance.
- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion evidence source_evidence_curated NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_provenance.
- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion SIO_000772 20358602 NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_provenance.
- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion wasDerivedFrom uniprot-20130724 NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_provenance.
- NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_assertion wasGeneratedBy ECO_0000218 NP4488.RAOgN3g2dS9HTsOiL9hf_EDf1-q9V76TCPQ3FUHsvEPVY130_provenance.