Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
T. Cassini, Laura Duncan, Lynette C Rives, J. Newman, J. Phillips, Mary E. Koziura, J. Brault, R. Hamid, J. Cogan
Molecular Genetics & Genomic Medicine