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613341.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual Impairment; Rod-cone 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_004744.5:c.241_242del
2
Leber Congenital Amaurosis 14
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References
Patel et al, 2018
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