Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.K427delFs
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MTM1

NM_000252.3:p.K427delFs

Associated Papers

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Reumers SFI et al.

Neurology, 2021

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Shichiji M et al.

Brain and Behavior, 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."