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613843.G.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_003322.6:c.901C>T
6
Leber Congenital Amaurosis 15
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Remarks
3 members of a family
References
Patel et al, 2018
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