Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.L220P
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TK2

NM_004614.5:p.L220P

Associated Papers

Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report.

Wu G et al.

Bmc Cardiovascular Disorders, 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

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases

Gencer Öncül EB et al.

Balkan Medical Journal, 2022

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.

Hu C et al.

Frontiers in Neurology, 2020

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S et al.

Human Mutation, 2013

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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."