Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms.
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| Title: | Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms. |
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| Authors: | Cassini, Thomas A.1,2 (AUTHOR) thomas.a.cassini@vanderbilt.edu, Duncan, Laura1 (AUTHOR), Rives, Lynette C.1 (AUTHOR), Newman, John H.2 (AUTHOR), Phillips, John A.1 (AUTHOR), Koziura, Mary E.1 (AUTHOR), Brault, Jennifer1 (AUTHOR), Hamid, Rizwan1 (AUTHOR), Cogan, Joy1 (AUTHOR), Adams, Christopher (AUTHOR), Adams, David (AUTHOR), Alejandro, Mercedes (AUTHOR), Allard, Patrick (AUTHOR), Ashley, Euan (AUTHOR), Azamian, Mashid (AUTHOR), Bacino, Carlos (AUTHOR), Balasubramanyam, Ashok (AUTHOR), Barseghyan, Hayk (AUTHOR), Beggs, Alan (AUTHOR), Bellen, Hugo (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. Jun2019, Vol. 7 Issue 6, pN.PAG-N.PAG. 1p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 23249269 |
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| DOI: | 10.1002/mgg3.676 |
