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600316.2
Home
Subject Details
Country
Lebanon
HPO Terms
Hearing impairment
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016239.4:c.1634C>T
1
Deafness, Autosomal Recessive 3
NM_016239.4:c.3988C>T
1
Deafness, Autosomal Recessive 3
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Remarks
Compound heterozygous
References
Jalkh et al. 2019
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