Varaico: Literature-Extracted Genetic Variants

Gene:DGKG
Variant:p.R681Q
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DGKG

NM_001346.3:p.R681Q

Associated Papers

Generation of an integration-free induced pluripotent stem cell line (LZUSHI001-A) from an epileptic patient with DGKG mutation.

Liu YQ et al.

Stem Cell Research, 2022

Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545C > A mutation in DNM1 gene.

Xu Y et al.

Stem Cell Research, 2022

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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."