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Publications & Presentations
PubMed
- 17 citationsWhole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.Thomas A. Cassini, Laura Duncan, Lynette Rives, John H. Newman, John A. Phillips, Mary Koziura, Jennifer A. Brault, Rizwan Hamid, Joy D. Cogan> ;Molecular Genetics & Genomic Medicine. 2019 Jun 1
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