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301500.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Elevated circulating creatinine concentration; Nephrotic range proteinuria; Hematuria
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000169.3:c.1277_1278del
1
Fabry Disease
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References
Al-Salam et al. 2012
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