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613835.G.6
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Subject Details
Country
Palestine
HPO Terms
Visual impairment
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_201253.3:c.4121_4130del
Leber Congenital Amaurosis 8
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Remarks
Group consisting of affected members from a Palestinian family
References
Beryozkin et al. 2013
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