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613826.6
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Subject Details
Country
Saudi Arabia
HPO Terms
Reduced visual acuity; Photophobia; Nystagmus;
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020366.3:c.3330T>A
2
Leber Congenital Amaurosis 6
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References
Khan et al. 2013;
Abu-Safieh et al, 2013
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