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- source_evidence_literature type ECO_0000212 NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_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." NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_assertion evidence source_evidence_literature NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_assertion SIO_000772 20358602 NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_assertion wasDerivedFrom befree-2016 NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_assertion wasGeneratedBy ECO_0000203 NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.
- befree-2016 importedOn "2016-02-19" NP803652.RANhGYAfTc-13OslC3RdgQlU1bFyrjfEQXJzTa5WdTjWI130_provenance.