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162080.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Pigmentary retinopathy; Reduced visual acuity
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006177.5:c.339C>G
2
Enhanced S-Cone Syndrome
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References
Khan. 2020
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