Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.T34A
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DLD

NM_000108.5:p.T34A

Associated Papers

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.

Lim EW et al.

Cell Metabolism, 2024

Fetal and obstetrics manifestations of mitochondrial diseases.

Adelizzi A et al.

Journal of Translational Medicine, 2024

Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.

Romero-Morales AI et al.

Development (cambridge, England), 2022

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Correa-Vela M et al.

Annals of Clinical and Translational Neurology, 2020

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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."