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613581.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Reduced visual acuity; Optic disc pallor; Attenuation of retinal blood vessels; Peripheral retinal atrophy; Hyperautofluorescent retinal lesion
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016247.4:c.189dup
2
Retinitis Pigmentosa 56
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References
Khan and Al Teneiji. 2019
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