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201300.1.1
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Subject Details
Country
Lebanon
HPO Terms
Somatic sensory dysfunction ; Peripheral neuropathy
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001184985.1:c.2971C>T
2
Neuropathy, Hereditary Sensory and Autonomic, Type II
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References
Roddier et al, 2005
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