Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.S319L
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POMK

NM_032237.5:p.S319L

Associated Papers

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Megarbane A et al.

Journal of Neuromuscular Diseases, 2022

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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."