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604232.G.1
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Subject Details
Country
Yemen
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_018418.5:c.1171C>T
4
Leber Congenital Amaurosis 3
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Remarks
2 members of a family
References
Patel et al, 2018
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