- databases for immunodeficiency-causing variations
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STXBP2base
Variation registry for Hemophagocytic lymphohistiocytosis
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STXBP2base mutation types
STXBP2base mutation types
The number of analyzed patients
Missense
17
Deletion inframe
2
Deletion frameshift
1
Splice site undefined
7
Total
27
The number of unrelated patients
Missense
14
Deletion inframe
2
Deletion frameshift
1
Splice site undefined
6
Total
23
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
