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232300.3
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Subject Details
Country
United Arab Emirates
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Sex
Female
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000152.3:c.340_341insT
2
Glycogen Storage Disease II
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Remarks
Pompe disease; older sibling with Pompe disease
References
Hamdan et al. 2010
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