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- databases for immunodeficiency-causing variations

   STX11base
   Variation registry for  Familial haemophagocytic lymphohistiocytosis 4


STX11base mutation types

STX11base mutation types

The number of analyzed patients
Nonsense5
Deletion frameshift13
Deletion undefined1
Total19
  
The number of unrelated patients
Nonsense5
Deletion frameshift8
Deletion undefined1
Total14