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220290.9
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Subject Details
Country
Lebanon
HPO Terms
Severe sensorineural hearing impairment
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004004.5:c.95G>A
1
Deafness, Autosomal Recessive 1A
NM_004004.6:c.290dup
1
Deafness, Autosomal Recessive 1A
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Remarks
Compound heterozygote
References
Mustapha et al, 2001
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