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613826.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment
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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_020366.3:c.1107del
4
Leber Congenital Amaurosis 6
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Remarks
2 members of a family
References
Patel et al, 2018
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