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154500.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Maxillozygomatic hypoplasia; Choanal atresia; Microtia; Atresia of the external auditory canal
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001371623.1:c.2656C>T
2
NA
Treacher Collins Syndrome 1
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References
Maddirevula et al. 2018
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