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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGKE

Variant:p.S58fs

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DGKE

NM_003647.3:p.S58fs

hg38:chr17:56834967 AGC>N

Associated Papers

Various phenotypes of disease associated with mutated DGKE gene.

Bezdíčka M et al.

European Journal of Medical Genetics, 2020

32413569 (PubMed )

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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."