Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.Q384P
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MTM1

NM_000252.3:p.Q384P

Associated Papers

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Gómez-Oca R et al.

International Journal of Molecular Sciences, 2021

Centronuclear myopathies under attack: A plethora of therapeutic targets.

Tasfaout H et al.

Journal of Neuromuscular Diseases, 2018

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Lawlor MW et al.

Journal of Neuropathology and Experimental Neurology, 2016

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Shelton GD et al.

Skeletal Muscle, 2015

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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."