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261630.2
Home
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_000320.3:c.49G>C
2
NA
Hyperphenylalaninemia, BH4-Deficient, C
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Remarks
Mutation identified through newborn screening
References
Al-Jasmi at al. 2016
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