Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.K351_L352Splc
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MTM1

NM_000252.3:p.K351_L352Splc

Associated Papers

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.

Fujise K et al.

International Journal of Molecular Sciences, 2022

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.

Wang Q et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 2016

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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."