Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.R292Q
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KCNJ1

NM_153766.3:p.R292Q

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report.

Baligeri K et al.

Clinical Nephrology. Case Studies, 2025

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.

Ding JJ et al.

Bmc Pediatrics, 2024

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

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

Elfert KA et al.

The American Journal of Case Reports, 2020

Late-onset Bartter syndrome type II.

Gollasch B et al.

Clinical Kidney Journal, 2017

Late-Onset Bartter's Syndrome Type II with End-Stage Renal Disease Due to a Novel Mutation in KCNJ1 Gene in an Indian Adult Male - A Case Report.

Gaggar P et al.

Indian Journal of Nephrology, 0

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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."