Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.H100R
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TK2

NM_004614.5:p.H100R

Associated Papers

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Blakely E et al.

Neuromuscular Disorders : Nmd, 2008

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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."