Associated Papers
Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.
Li D et al.
Orphanet Journal of Rare Diseases, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C et al.
Journal of Medical Genetics, 2018
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