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232200.5
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Subject Details
Country
United Arab Emirates
HPO Terms
Hypoglycemia; Hepatosplenomegaly; Increased serum lactate; Ventricular hypertrophy;
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001270397.1:c.352G>C
2
Glycogen Storage Disease I
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References
Al-Shamsi et al. 2016;
Ali et al. 2011
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