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615024.1
Home
Subject Details
Country
Lebanon
HPO Terms
Ichthyosis
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001145717.1:c.535C>T
2
Ichthyosis, Congenital, Autosomal Recessive, 10
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Remarks
Has affected siblings
References
Nair et al. 2018
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