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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TK2

Variant:p.P227fs

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TK2

NM_004614.5:p.P227fs

hg38:chr16:66513751 GGG>N

Associated Papers

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Ceballos F et al.

Neurology. Genetics, 2024

38544965 (PubMed )

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Domínguez-González C et al.

Annals of Neurology, 2019

31125140 (PubMed )

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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."