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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TK2

Variant:p.S61N

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TK2

NM_004614.5:p.S61N

hg38:chr16:66541928 C>T

Associated Papers

Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.

Bergonzini L et al.

Neurology, 2025

40030095 (PubMed )

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