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613148.2
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Subject Details
Country
Lebanon
HPO Terms
Microcytic anemia; Recurrent fever; Increased inflammatory response; Reduced mevalonate kinase activity
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001558.4:c.172G>A
1
Inflammatory Bowel Disease 28, Autosomal Recessive
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References
Jalkh et al. 2019
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