686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome.
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| Title: | 686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome. |
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| Authors: | Silverstein, S.1,2,3 (AUTHOR), Donkervoort, S.1 (AUTHOR), Cassini, T.4 (AUTHOR), Vetrini, F.5,6 (AUTHOR), Conboy, E.5,6 (AUTHOR), Comer, A.7 (AUTHOR), Treat, K.5,6 (AUTHOR), Liaqat, K.5,6 (AUTHOR), Mantcheva, L.5,6 (AUTHOR), Patankar, A.8 (AUTHOR), Bharucha-Goebel, D.1,9 (AUTHOR), Foley, A.1 (AUTHOR), Chao, K.10 (AUTHOR), Neuhaus, S.1 (AUTHOR), Grunseich, C.8 (AUTHOR), Bonnemann, C.1 (AUTHOR) |
| Source: | Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p. |
| Database: | Academic Search Ultimate |
| ISSN: | 09608966 |
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| DOI: | 10.1016/j.nmd.2024.07.396 |
