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613101.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Abnormal natural killer cell physiology; Chronic diarrhea
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006949.4:c.1430C>T
2
NA
Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease
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References
Pagel et al. 2012
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