- databases for immunodeficiency-causing variations
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CEBPEbase
Variation registry for Neutrophil-specific granule deficiency
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ADAbase
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NPbase
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PTPRCbase
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RAD50base
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RASGRP2base
RFX5base
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RNF168base
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SERPING1base
SH2D1Abase
SLC35C1base
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SP110base
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STAT5Bbase
STIM1base
STX11base
STXBP2base
TAP1base
TAP2base
TAPBPbase
TAZbase
TCN2base
TLR3base
TMC6base
TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
CEBPEbase mutation types
CEBPEbase mutation types
The number of analyzed patients
Missense
1
Deletion frameshift
1
Insertion frameshift
1
Total
3
The number of unrelated patients
Missense
1
Deletion frameshift
1
Insertion frameshift
1
Total
3
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
