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- databases for immunodeficiency-causing variations

   DNMT3Bbase
   Variation registry for  ICF syndrome


DNMT3Bbase mutation types

DNMT3Bbase mutation types

The number of analyzed patients
Missense15
Nonsense3
Insertion frameshift1
Splice site undefined1
Total20
  
The number of unrelated patients
Missense13
Nonsense3
Insertion frameshift1
Splice site undefined1
Total18