Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.S420_R421Splc
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MTM1

NM_000252.3:p.S420_R421Splc

Associated Papers

Characterization of congenital myopathies at a Korean neuromuscular center.

Park YE et al.

Muscle & Nerve, 2018

X-linked recessive myotubular myopathy with MTM1 mutations.

Han YM et al.

Korean Journal of Pediatrics, 2013

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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."