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261600.43
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Subject Details
Country
United Arab Emirates
HPO Terms
Hyperphenylalaninemia
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000277.3:c.250G>T
2
Phenylketonuria
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Remarks
Mutation identified through newborn screening
References
Al-Jasmi at al. 2016
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