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- source_evidence_literature type ECO_0000212 NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_assertion description "[Over the last several years, intragenic or genomic alterations of the CDKL5 and FOXG1 genes have been associated with severe cognitive impairment, early onset epilepsy and, often, dyskinetic movement disorders, which have variably been defined as Rett variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_assertion evidence source_evidence_literature NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_assertion SIO_000772 22998673 NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_assertion wasDerivedFrom befree-2016 NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_assertion wasGeneratedBy ECO_0000203 NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1014884.RA3-BqSiGRaocoSYASLoIO3AYv2h8Mi5EeQAPrMfyDhQY130_provenance.