Varaico: Literature-Extracted Genetic Variants

Gene:DGKE
Variant:p.L24fs
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DGKE

NM_003647.3:p.L24fs

Associated Papers

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 2018

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 haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.

Miyata T et al.

Thrombosis and Haemostasis, 2015

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.

Sharma J 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."