Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.V524I
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CLCNKB

NM_000085.5:p.V524I

Associated Papers

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.

Seifert M et al.

Cancers, 2020

32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › MuTect_SNV_Predictions

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Bettinelli A et al.

Pediatric Research, 2005

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.

Fukuyama S et al.

Kidney International, 2003

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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."