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251000.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Methylmalonic aciduria
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000255.4:c.2080C>T
2
NA
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
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Remarks
Mutation identified through newborn screening
References
Al-Jasmi at al. 2016
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