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607155.1
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Subject Details
Country
Lebanon
HPO Terms
Muscular dystrophy; Highly elevated creatine kinase;
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_024301.5:c.823C>T
2
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
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References
Nair et al. 2018
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