Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.A504V
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TWNK

NM_021830.5:p.A504V

Associated Papers

Genotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.

Wang J et al.

Neuropathology and Applied Neurobiology, 2025

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.

Bris C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."