Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion> ?p ?o ?g. }
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- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion type Assertion NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_head.
- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_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." NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_provenance.
- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion evidence source_evidence_curated NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_provenance.
- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion SIO_000772 20358602 NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_provenance.
- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion wasDerivedFrom uniprot-2016 NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_provenance.
- NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_assertion wasGeneratedBy ECO_0000218 NP6169.RA_g8rdCcUCDfaRM7cdyx1QDEecqd9-XYu_KItIpThUcc130_provenance.