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616517.G.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_007348.4:c.949C>T
4
Achromatopsia 7
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Remarks
2 family members
References
Patel et al, 2018
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