Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion> ?p ?o ?g. }
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- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion type Assertion NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_head.
- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_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." NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_provenance.
- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion evidence source_evidence_literature NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_provenance.
- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion SIO_000772 20358602 NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_provenance.
- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion wasDerivedFrom gad-20150221 NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_provenance.
- NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_assertion wasGeneratedBy ECO_0000203 NP141911.RAWIz8Ehmz4wo7wGYkYKQA3uRPtBWp7hZCsBhQtMgShRA130_provenance.