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261600.4
Home
Subject Details
Country
Lebanon
HPO Terms
Hyperphenylalaninemia
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Sex
Unknown
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000277.3:c.782G>A
2
Phenylketonuria
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Remarks
Diagnosed through NBS
References
Karam et al. 2013
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