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607084.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Hearing impairment
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015404.4:c.2140C>T
2
Deafness, Autosomal Recessive 31
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References
Monies et al. 2017
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