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248600.3
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Subject Details
Country
Lebanon
HPO Terms
Ketosis; Lactic acidosis; Abnormal circulating isoleucine concentration; Abnormal circulating leucine concentration; Abnormal circulating valine concentration
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_183050.4:c.995C>T
2
Maple Syrup Urine Disease
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References
Nair et al. 2018
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