Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion type Assertion NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_head.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_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." NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_provenance.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion evidence source_evidence_literature NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_provenance.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion SIO_000772 20358602 NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_provenance.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion wasDerivedFrom gad-20150221 NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_provenance.
- NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_assertion wasGeneratedBy ECO_0000203 NP168847.RABWw4ysNWsQpuD9U_UfTrcfGKITRiicRYqGm67bm0c98130_provenance.