Varaico: Literature-Extracted Genetic Variants

Gene:DGKE
Variant:p.T204fs
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DGKE

NM_003647.3:p.T204fs

Associated Papers

Novel compound heterozygous mutation of the diacylglycerol kinase epsilon gene and membranoproliferative glomerulonephritis: a case report.

Lau SHY et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2023

Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report.

Dai X et al.

Frontiers in Pediatrics, 2023

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.

Azukaitis K et al.

Journal of the American Society of Nephrology : Jasn, 2017

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

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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."