Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.C99insFs
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D2HGDH

NM_152783.5:p.C99insFs

Associated Papers

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA et al.

American Journal of Human Genetics, 2005

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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."