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Subject Details
Country
United Arab Emirates
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_001918.4:c.1281+1G>T
2
NA
Maple Syrup Urine Disease
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References
Al-Jasmi at al. 2016
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