Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.C187Y
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L2HGDH

NM_024884.3:p.C187Y

Associated Papers

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

Yang J et al.

The Journal of Biological Chemistry, 2024

37995940 (PubMed )
Supplement: mmc1.pdf

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.

Muzammal M et al.

Genes, 2022

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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."