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276901.2
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Subject Details
Country
Lebanon
HPO Terms
Progressive visual loss; Bilateral sensorineural hearing impairment
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_206933.4:c.532dup
2
Usher Syndrome, Type IIA
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References
Reddy et al. 2014
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