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- source_evidence_literature type ECO_0000212 NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_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." NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_assertion evidence source_evidence_literature NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_assertion SIO_000772 20358602 NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_assertion wasDerivedFrom gad-20150221 NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_assertion wasGeneratedBy ECO_0000203 NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.
- gad-20150221 importedOn "2015-02-21" NP132715.RACjH63AOgD8l6CiGR3zOLekJLQ12osqFmpB-ONI-I-h4130_provenance.