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312700.G.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Retinoschisis
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000330.4:c.52+3A>G
3
NA
Retinoschisis 1, X-Linked, Juvenile
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Remarks
3 patients with X-linked retinoschisis
References
Khan. 2020
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