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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network. Cassini TA, et al. Among authors: cogan j. Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25. Mol Genet Genomic Med. 2019. PMID: 31020813 Free PMC article.
A novel mechanism of aberrant pre-mRNA splicing in humans.
Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EM, Phillips JA 3rd. Cogan JD, et al. Hum Mol Genet. 1997 Jun;6(6):909-12. doi: 10.1093/hmg/6.6.909. Hum Mol Genet. 1997. PMID: 9175738
632 results