Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_assertion wasGeneratedBy ECO_0000203 NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_assertion wasDerivedFrom befree-20140225 NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_assertion SIO_000772 18405873 NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_assertion evidence source_evidence_literature NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_assertion description "[We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP313243.RAHhuvWePpsZY79rT8GMasOKI3ztG8-XxnbF3hDu81I4c130_provenance.