Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion> ?p ?o ?g. }
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- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion type Assertion NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_head.
- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion description "[Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_provenance.
- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion evidence source_evidence_literature NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_provenance.
- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion SIO_000772 17273969 NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_provenance.
- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion wasDerivedFrom befree-2016 NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_provenance.
- NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_assertion wasGeneratedBy ECO_0000203 NP592064.RA3teGTlCsnwg8E41wyuaalrAyHLFpOcv7KwDzkxlO35A130_provenance.