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117000.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Multiple joint contractures; Scoliosis; Cardiomegaly
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000540.3:c.13505A>G
1
Central Core Disease of Muscle
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References
Mu et al. 2019
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