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615592.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Failure to thrive; Recurrent infections
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001556.3:c.849G>A
2
Immunodeficiency 15B
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Remarks
Two deceased siblings with same presentation
References
Al-Shamsi et al. 2016
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