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220290.G.12
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Subject Details
Country
United Arab Emirates
HPO Terms
Congenital sensorineural hearing impairment
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004004.5:c.-23+1G>A
6
Deafness, Autosomal Recessive 1A
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Remarks
3 individuals with hearing loss
References
Elsayed O and Al-Shamsi A. 2022
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