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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TUBA1A and Severe global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Morris-Rosendahl DJ, etal., Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x.
  • 9 additional annotations were made from Morris-Rosendahl DJ, etal., Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x.
  • 253 RGD objects have been annotated to Severe global developmental delay  (HP:0011344)
  • 10 papers in RGD have been used to annotate TUBA1A
  • Curation Notes: associated with Lissencephaly;DNA:missense mutations:cds:


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