Varaico: Literature-Extracted Genetic Variants

Gene:OGDHL
Variant:p.S778L
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OGDHL

NM_018245.3:p.S778L

Associated Papers

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Lin SJ et al.

Genome Medicine, 2023

OGDHL Variant rs2293239: A Potential Genetic Driver of Chinese Familial Depressive Disorder.

Pan Z et al.

Frontiers in Psychiatry, 2022

Toward an Understanding of the Structural and Mechanistic Aspects of Protein-Protein Interactions in 2-Oxoacid Dehydrogenase Complexes.

Nemeria NS et al.

Life (basel, Switzerland), 2021

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information.

Wang J et al.

Journal of Visualized Experiments : Jove, 2019

Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila.

Deal SL et al.

Frontiers in Genetics, 2018

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Yoon WH et al.

Neuron, 2017

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E et al.

Neuron, 2015

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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."