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613801.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Rod-cone dystrophy
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Sex
Unknown
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000283.3:c.992+1G>A
2
Retinitis Pigmentosa 40
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References
Patel et al, 2018
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