Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.L197F
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KCNJ1

NM_153766.3:p.L197F

Associated Papers

Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.

Tsui HC et al.

Frontiers in Pediatrics, 2025

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