Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.W441C
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TWNK

NM_021830.5:p.W441C

Associated Papers

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

Sanchez-Martinez A et al.

Plos One, 2012

Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells.

Matsushima Y et al.

The Journal of Biological Chemistry, 2007

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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."