Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.L439F
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MTM1

NM_000252.3:p.L439F

Associated Papers

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E et al.

Neuromuscular Disorders : Nmd, 2004

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

Nishino I et al.

Neuromuscular Disorders : Nmd, 1998

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

de Gouyon BM et al.

Human Molecular Genetics, 1997

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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."