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613428.G.1
Home
Subject Details
Country
Egypt
HPO Terms
Retinal dystrophy
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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_001029883.3:c.3002G>A
6
Retinitis Pigmentosa 54
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Remarks
3 family members
References
Patel et al, 2018
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