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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TBC1D24 and myoclonic-atonic epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Milh M, etal., Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12.
  • 2 additional annotations were made from Milh M, etal., Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12.
  • 24 RGD objects have been annotated to myoclonic-atonic epilepsy  (DOID:0060475)
  • 9 papers in RGD have been used to annotate TBC1D24
  • Curation Notes: DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)


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