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604393.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014336.5:c.178dup
2
Leber Congenital Amaurosis 4
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References
Patel et al. 2016
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