Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.T190I
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L2HGDH

NM_024884.3:p.T190I

Associated Papers

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Leal-Ortega R et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024

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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."