Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.K136R
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L2HGDH

NM_024884.3:p.K136R

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

Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.

Bildirici Y et al.

Molecular Biology Reports, 2023

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

Muzammal M et al.

Genes, 2022

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

Peng W et al.

Bmc Medical Genetics, 2018

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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."