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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RPGRIP1L and Oculomotor apraxia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Delous M, etal., Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.
  • 24 additional annotations were made from Delous M, etal., Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.
  • 99 RGD objects have been annotated to Oculomotor apraxia  (HP:0000657)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: associated with Joubert Syndrome 7;DNA:mutations:exons:


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