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232200.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Increased sarcoplasmic glycogen; Increased hepatic glycogen content; Abnormal bleeding; Hypoglycemia;
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000151.3:c.247C>T
2
Glycogen Storage Disease I
NM_000152.4:c.266G>A
2
Glycogen Storage Disease I
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References
Monies et al. 2017
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