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310200.5
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Abnormal facial shape
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004006.3:c.5005G>A
1
Muscular Dystrophy, Duchenne Type
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References
Monies et al. 2017
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