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613835.5
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Subject Details
Country
United Arab Emirates
HPO Terms
Visual impairment; Nystagmus
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_201253.3:c.2911A>G
1
Leber Congenital Amaurosis 8
NM_201253.3:c.3447G>C
1
Leber Congenital Amaurosis 8
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References
Khan. 2020
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