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A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

  • Pagnamenta, AT, Murray, JE, Yoon, G, et al.
  • 2012-10-05
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X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

  • Huber, I, Bitner-Glindzicz, M, de Kok, YJ, et al.
  • 1994-07-05
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