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220290.8
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Subject Details
Country
Egypt
HPO Terms
Bilateral sensorineural hearing impairment
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004004.6:c.334_335del
1
NA
Deafness, Autosomal Recessive 1A
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References
Snoeckx et al. 2005
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