Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R682H
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TWNK

NM_021830.5:p.R682H

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

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

Peter B et al.

Genes, 2020

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Jarmula A et al.

Scientific Reports, 2019

31395899 (PubMed )
Supplement: 41598_2019_47849_MOESM1_ESM.pdf
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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."