Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.Q133*
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L2HGDH

NM_024884.3:p.Q133*

Associated Papers

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Christen M et al.

Journal of Veterinary Internal Medicine, 2023

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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."