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248200.7
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Subject Details
Country
United Arab Emirates
HPO Terms
Macular atrophy; Reduced visual acuity
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000350.3:c.5882G>A
1
Stargardt Disease 1
NM_000350.3:c.3259G>A
1
Stargardt Disease 1
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Remarks
Patient '19' in the publication
References
Khan. 2020
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