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222700.1
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Subject Details
Country
Morocco
HPO Terms
Renal Fanconi syndrome; Metabolic acidosis
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003982.4:c.726G>A
2
Lysinuric Protein Intolerance
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References
Benninga et al. 2007
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