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276902.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
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_174878.3:c.254-649T>G
4
Usher Syndrome, Type IIIA
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Remarks
2 family members
References
Patel et al, 2018
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