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615860.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015072.4:c.1039T>C
2
Cone-Rod Dystrophy 19
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References
Patel et al, 2018
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