- databases for immunodeficiency-causing variations
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RFXANKbase
Variation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency
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RFXANKbase mutation types
RFXANKbase mutation types
The number of analyzed patients
Missense
2
Nonsense
4
Deletion frameshift
1
Splice site inframe
1
Splice site frameshift
21
Splice site undefined
1
Total
30
The number of unrelated patients
Missense
2
Nonsense
4
Deletion frameshift
1
Splice site inframe
1
Splice site frameshift
21
Splice site undefined
1
Total
30
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
