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201910.10
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Subject Details
Country
Tunisia
HPO Terms
Congenital adrenal hyperplasia; Renal salt wasting;
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_032470.3:c.*253G>A
2
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
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References
Kharrat et al. 2004
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