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204100.2
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Rod-cone dystrophy
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000329.3:c.993G>A
2
NA
Leber Congenital Amaurosis 2
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References
Khan. 2020
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