Associated Papers
Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.
Nokchan N et al.
Journal of Personalized Medicine, 2024
39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S2.xlsx › Supplementary_Table_S2.
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM10_ESM.xlsx › Supplementary_Data_7
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.
Anghileri E et al.
Brain Research, 2016
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME et al.
Human Mutation, 2010
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