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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Dkc1 and aplastic anemia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Singh I, etal., Leuk Res. 2015 Sep 7. pii: S0145-2126(15)30370-2. doi: 10.1016/j.leukres.2015.08.018.
  • The annotation has been inferred from sequence orthology with DKC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Singh I, etal., Leuk Res. 2015 Sep 7. pii: S0145-2126(15)30370-2. doi: 10.1016/j.leukres.2015.08.018.
  • 286 RGD objects have been annotated to aplastic anemia  (DOID:12449)
  • 13 papers in RGD have been used to annotate Dkc1
  • Curation Notes: DNA:missense mutations:exon:p.V105G, p.S121A (human)


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