Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.R121H
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DPAGT1

NM_001382.4:p.R121H

Associated Papers

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Cheli M et al.

Journal of Neuromuscular Diseases, 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."