Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.K684Q
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TWNK

NM_021830.5:p.K684Q

Associated Papers

The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.

Erdinc D et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.

Tamrakar A et al.

Cureus, 2022

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.

Peter B et al.

Genes, 2020

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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."