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610356.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Cone/cone-rod dystrophy; Reduced visual acuity; Color vision defect
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_133497.4:c.325C>T
2
Retinal Cone Dystrophy 3B
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References
Khan. 2020;
Georgiou et al. 2021
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