Varaico: Literature-Extracted Genetic Variants

Gene:DGKE
Variant:p.P12L
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DGKE

NM_003647.3:p.P12L

Associated Papers

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

Bogusławska DM et al.

International Journal of Molecular Sciences, 2021

34681667 (PubMed )
Supplement: ijms-22-11007-s001.zip › ijms-1388284_BoguslawskaetalAdditfile3.xlsx › Biological_context_SPTB

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

Lemaire M et al.

Nature Genetics, 2013

23542698 (PubMed )
Supplement: NIHMS474970-supplement-1.pdf
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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."