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605472.1
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Subject Details
Country
Lebanon
HPO Terms
Visual impairment; Hearing impairment; Photophobia
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_032119.4:c.5643del
2
Usher Syndrome, Type IIC
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References
Jalkh et al. 2019
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