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248600.G.1
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Subject Details
Country
Jordan
HPO Terms
Elevated plasma branched chain amino acids
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_183050.4:c.490G>A
Maple Syrup Urine Disease
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Remarks
UAE resident(s) of Jordanian origin. Number of patient(s) unknown.
References
Al-Jasmi at al. 2016
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