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191830.1
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Subject Details
Country
Lebanon
HPO Terms
Renal hypoplasia/aplasia
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020975.6:c.2735G>A
1
Renal Hypodysplasia/Aplasia 1
NM_138694.4:c.5086T>G
1
Renal Hypodysplasia/Aplasia 1
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Remarks
One kidney missing
References
Nair et al. 2018
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