Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.L70fs
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MTM1

NM_000252.3:p.L70fs

Associated Papers

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.

Takeuchi Y et al.

Internal Medicine (tokyo, Japan), 2024

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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."