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- databases for immunodeficiency-causing variations

   DKC1base
   Variation registry for  Hoyeraal-Hreidarsson syndrome


DKC1base mutation types

DKC1base mutation types

The number of analyzed patients
Missense11
Splice site undefined1
Unclassified1
Total13
  
The number of unrelated patients
Missense8
Splice site undefined1
Unclassified1
Total10