Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.K363fs
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MTM1

NM_000252.3:p.K363fs

Associated Papers

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.

Molera C et al.

Journal of Neuromuscular Diseases, 2022

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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."