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276900.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment; Sensorineural hearing impairment
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Sex
Unknown
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000260.4:c.487G>A
2
Usher Syndrome Type I
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References
Patel et al, 2018
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