Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.R123G
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TK2

NM_004614.5:p.R123G

Associated Papers

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Chen PS et al.

Journal of Neuromuscular Diseases, 2023

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.

Hou Y et al.

Molecular Genetics & Genomic Medicine, 2022

Thymidine Kinase 2 Deficiency-Induced Adult-Onset Ptosis and Proximal Weakness.

Cheng CY et al.

Neurology. Clinical Practice, 2021

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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."