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613824.1
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Subject Details
Country
Lebanon
HPO Terms
Cystic renal dysplasia; Enlarged kidney; Renal insufficiency; Anemia
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_178170.3:c.133C>T
1
Nephronophthisis 9
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Remarks
de novo variant
References
Mehawej et al. 2022
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