Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.A420T
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D2HGDH

NM_152783.5:p.A420T

Associated Papers

D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.

Lin AP et al.

Nature Communications, 2015

26178471 (PubMed )
Supplement: ncomms8768-s1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202

Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.

Brehmer S et al.

Neuropathology and Applied Neurobiology, 2011

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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."