Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.S369F
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TWNK

NM_021830.5:p.S369F

Associated Papers

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.

Ros-Arlanzón P et al.

Revista De Neurologia, 2024

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.

Feng Z et al.

Frontiers in Neurology, 2023

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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."