- databases for immunodeficiency-causing variations
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AP3B1base
Variation registry for Hermansky-Pudlak syndrome 2
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TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
AP3B1base mutation types
AP3B1base mutation types
The number of analyzed patients
Nonsense
2
Deletion inframe
2
Deletion frameshift
1
Deletion undefined
2
Insertion frameshift
2
Splice site inframe
1
Splice site undefined
1
Total
11
The number of unrelated patients
Nonsense
2
Deletion inframe
1
Deletion frameshift
1
Deletion undefined
1
Insertion frameshift
1
Splice site inframe
1
Splice site undefined
1
Total
8
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025
