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181350.1
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Subject Details
Country
Lebanon
HPO Terms
Muscular dystrophy; Ventricular tachycardia
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_170707.4:c.1357C>T
1
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
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References
Refaat et al. 2019
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