Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion> ?p ?o ?g. }
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- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion type Assertion NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_head.
- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion wasGeneratedBy ECO_0000203 NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_provenance.
- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion wasDerivedFrom befree-20150227 NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_provenance.
- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion SIO_000772 18405873 NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_provenance.
- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_assertion evidence source_evidence_literature NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_provenance.
- NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_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." NP362681.RABrUT1EPdGwNzHPrDTnx49aSWEevaeCCfyNwVhJ3K8as130_provenance.