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276901.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment; Hearing 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_206933.4:c.486-1G>C
8
Usher Syndrome, Type IIA
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Remarks
4 members of a family
References
Patel et al, 2018
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