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601386.1
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_022124.6:c.7790T>A
2
Deafness, Autosomal Recessive 12
NM_000441.2:c.2029C>T
1
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References
Jalkh et al. 2019
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