Varaico: Literature-Extracted Genetic Variants

Gene:DGKE
Variant:p.M168I
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DGKE

NM_003647.3:p.M168I

Associated Papers

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Castellsagué J et al.

Embo Molecular Medicine, 2015

25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-001_SNV

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."