Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.V103E
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KCNJ1

NM_153766.3:p.V103E

Associated Papers

Phenotypic and genotypic characteristics of children with Bartter syndrome.

Güven S et al.

The Turkish Journal of Pediatrics, 2022

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.

Starremans PG et al.

Pflugers Archiv : European Journal of Physiology, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."