Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.E86V
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TWNK

NM_021830.5:p.E86V

Associated Papers

Homologous DNA strand exchange activity of the human mitochondrial DNA helicase TWINKLE.

Sen D et al.

Nucleic Acids Research, 2016

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Ashley N et al.

Human Molecular Genetics, 2007

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Spelbrink JN et al.

Nature Genetics, 2001

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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."