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216900.G.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment
Back to search Result
Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001298.3:c.556C>T
6
Achromatopsia 2
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Remarks
3 family members
References
Patel et al, 2018
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