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246900.G.1
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Subject Details
Country
United Arab Emirates
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000108.5:c.685G>T
4
Dihydrolipoamide Dehydrogenase Deficiency
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Remarks
Group of 2 patients
References
Al-Shamsi et al. 2014
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