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615984.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_176824.3:c.602-2A>T
4+
Bardet-Biedl Syndrome 7
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Remarks
Family with unknown number of affected members
References
Patel et al. 2016
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