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- databases for immunodeficiency-causing variations

   LIG4base
   Variation registry for  LIG4 syndrome


LIG4base mutation types

LIG4base mutation types

The number of analyzed patients
Missense7
Nonsense3
Deletion inframe1
Multiple1
Total12
  
The number of unrelated patients
Missense5
Nonsense2
Deletion inframe1
Multiple1
Total9