A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia

  • Clinton Carroll, Tracy E. Hunley, Yan Guo, David Cortez
  • American Journal of Medical Genetics Part A, May 2015, Wiley
  • DOI: 10.1002/ajmg.a.37146

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http://dx.doi.org/10.1002/ajmg.a.37146

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