First identification of rare exonic and deep intronic splice-altering variants in patients with beta-sarcoglycanopathy

HIGHLIGHTS

• who: Wei Zhang and Yun Yuan from the United States University of Padua, Italy have published the research work: First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy, in the Journal: (JOURNAL)

SUMMARY

The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as non-canonical splicing site variants, deep intronic splice-altering variants (DISVs), and/or complex structural variants do exist in DMD or sarcoglycan genes. Two novel DISVs and a rare exonic splice-altering variant, i.e., an aberrant splicing event . . .

 



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