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219800.9
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Subject Details
Country
Saudi Arabia
HPO Terms
Renal insufficiency; Corneal crystals
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004937.3:c.922G>A
2
Cystinosis, Nephropathic
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Remarks
Patient 'CTNS-F8-1' in the publication
References
Aldahmesh et al. 2009
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