Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.A151P
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D2HGDH

NM_152783.5:p.A151P

Associated Papers

Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.

Tanikawa S et al.

Virchows Archiv : an International Journal of Pathology, 2024

Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults.

Tabarestani S et al.

Annals of Clinical and Translational Neurology, 2020

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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."