Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion type Assertion NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_head.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion description "[We report here the cerebral lesions in a 36 weeks' gestation female foetus with a novel de novo missense mutation in the TUBA1A gene, presenting the most severe antenatal phenotype reported so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_provenance.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion evidence source_evidence_literature NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_provenance.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion SIO_000772 20376468 NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_provenance.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion wasDerivedFrom befree-20140225 NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_provenance.
- NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_assertion wasGeneratedBy ECO_0000203 NP924118.RAART1YZnWOEdUJm70aybgPSdimp7NzVIH0qfvBceyJd8130_provenance.