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241500.1
Home
Subject Details
Country
Lebanon
HPO Terms
Seizure; Global developmental delay; Low alkaline phosphatase
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000478.6:c.668G>A
1
Hypophosphatasia, Infantile
NM_000478.6:c.449T>G
1
Hypophosphatasia, Infantile
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References
Nair et al. 2018
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