Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.L202fs
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MTM1

NM_000252.3:p.L202fs

Associated Papers

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Hedberg C et al.

Neuromuscular Disorders : Nmd, 2012

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Drouet A et al.

Revue Neurologique, 2008

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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."