Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.Q197*
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L2HGDH

NM_024884.3:p.Q197*

Associated Papers

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

Muzammal M et al.

Genes, 2022

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME et al.

Human Mutation, 2010

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L et al.

Journal of Human Genetics, 2010

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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."