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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy |
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| Authors: | Samantha J Bryen Emily C Oates Frances J Evesson Jessica K Lu Leigh B Waddell Himanshu Joshi Monique M Ryan Beryl B Cummings Catriona A McLean Daniel G MacArthur Andrew J Kornberg Sandra T Cooper |
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