Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.R595*
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CLCNKB

NM_000085.5:p.R595*

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.

Hernández NEG et al.

Archives of Medical Research, 2023

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Vaisbich MH et al.

Nephron, 2023

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Palazzo V et al.

International Journal of Molecular Sciences, 2022

35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_3.xlsx › Table_3

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.

Zhu B et al.

Bmc Medical Genetics, 2019

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E et al.

Journal of the American Society of Nephrology : Jasn, 2017

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

García Castaño A et al.

Plos One, 2017

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Li L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.

Dong Y et al.

Chinese Medical Journal, 2010

Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.

Bettinelli A et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007

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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."