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302800.1
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Subject Details
Country
Lebanon
HPO Terms
Skeletal muscle atrophy; Gait disturbance; Abnormal motor nerve conduction velocity
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001097642.2:c.164_184dup
1
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
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References
Nair et al. 2018
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