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614576.1
Home
Subject Details
Country
United Arab Emirates
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020751.3:c.1167-24A>G
2
Congenital Disorder of Glycosylation, Type IIL
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References
Bertoli-Avella et al. 2021
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