Varaico: Literature-Extracted Genetic Variants

Gene:TKTL1
Variant:p.I519V
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TKTL1

NM_012253.4:p.I519V

Associated Papers

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Guan MX et al.

Molecular and Cellular Biology, 1998

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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."