First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
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DOI: 10.3389/fped.2022.900280
Abstract: Background The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the… read more here.
Keywords: splice; deep intronic; altering variants; splice altering ... See more keywords