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248500.G.1
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Subject Details
Country
United Arab Emirates
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000528.3:c.2119C>T
6
Mannosidosis, Alpha B, Lysosomal
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Remarks
3 patients belonging to an Emirati tribe
References
Al-Jasmi et al. 2013
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