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611590.3
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Subject Details
Country
Oman
HPO Terms
Failure to thrive; Rickets; Splenomegaly
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000342.4:c.2573C>A
2
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
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References
Fawaz et al. 2012
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