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219800.8
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Subject Details
Country
Morocco
HPO Terms
Glycosuria; Polyuria; Vomiting
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004937.3:c.61+5G>A
2
Cystinosis, Nephropathic
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Remarks
Patient 'CY55' in the publication
References
Macías-Vidal et al. 2009
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