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263800.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Metabolic acidosis; Hypomagnesemia; Hypocalciuria
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001126108.2:c.1670-191C>T
2
Gitelman Syndrome
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References
Bertoli-Avella et al. 2021
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