Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.R381K
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MTM1

NM_000252.3:p.R381K

Associated Papers

Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.

Lee IC et al.

Journal of Child Neurology, 2012

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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."