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613809.G.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Rod-cone dystrophy; 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_206933.2:c.4033G>C
6
Retinitis Pigmentosa 39
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Remarks
3 members of a family
References
Patel et al, 2018
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