Varaico: Literature-Extracted Genetic Variants

Gene:TUT1
Variant:p.L55insFs
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TUT1

NM_022830.3:p.L55insFs

Associated Papers

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Knierim E et al.

Mitochondrion, 2015

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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."