Pathogenic Deep Intronic MTM1 Variant Activates a Pseudo-Exon Encoding a Nonsense Codon Resulting in Severe X-linked Myotubular Myopathy.
European journal of human genetics（2020）
关键词
Genetics research,Mutagenesis,Next-generation sequencing,RNA splicing,Transcriptomics,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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