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614455.1
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Subject Details
Country
Lebanon
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022489.4:c.312C>G
1
Charcot-Marie-Tooth Disease, Dominant Intermediate E
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Remarks
Clinical features not specified.
References
Megarbane et al. 2022
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