Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_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." NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_assertion evidence source_evidence_curated NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_assertion SIO_000772 20358602 NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_assertion wasDerivedFrom uniprot-20130724 NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_assertion wasGeneratedBy ECO_0000218 NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.