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604320.5
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Subject Details
Country
Lebanon
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002180.3:c.1540G>A
2
Charcot-Marie-Tooth Disease, Axonal, Type 2S
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References
Jalkh et al. 2019
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