Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.F325C
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KCNJ1

NM_153766.3:p.F325C

Associated Papers

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.

Tian M et al.

Frontiers in Medicine, 2022

Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel.

Ponzoni L et al.

Plos Computational Biology, 2020

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Peters M et al.

Kidney International, 2003

Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

Jeck N et al.

Kidney International, 2001

Gating of inward-rectifier K+ channels by intracellular pH.

Schulte U et al.

European Journal of Biochemistry, 2000

pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome.

Schulte U et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."