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133780.1
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Subject Details
Country
Lebanon
HPO Terms
Blindness; Leber optic atrophy
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_012193.4:c.762del
1
Exudative Vitreoretinopathy 1
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References
Jalkh et al. 2019
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