Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.S107Y
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L2HGDH

NM_024884.3:p.S107Y

Associated Papers

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.

Anghileri E et al.

Brain Research, 2016

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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."