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268100.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014249.4:c.932G>A
6
Enhanced S-Cone Syndrome
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Remarks
3 members of a family
References
Patel et al, 2018
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