Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.L478R
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TYMP

NM_001953.5:p.L478R

Associated Papers

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Bermejo-Guerrero L et al.

Journal of Clinical Medicine, 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."