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145900.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Gait disturbance; Hearing impairment; Scoliosis
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_181882.2:c.1090C>T
2
Hypertrophic Neuropathy of Dejerine-Sottas
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References
Al-Shamsi et al. 2016
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