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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease bartter disease
Comorbidity C0268450|gitelman syndrome
Sentences 1
PubMedID- 22907601 Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of gitelman syndrome, with hypokalemic alkalosis, hypomagnesemia, and hypocalciuria.

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