16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy.
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| Title: | 16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy. |
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| Authors: | Metay, C.1,2 (AUTHOR), Ghanem, R.1 (AUTHOR), Toutain, A.3 (AUTHOR), Bloch, A.1 (AUTHOR), Blin, E.1 (AUTHOR), Jobic, V.1 (AUTHOR), Pham, T.4 (AUTHOR), Lejeune, E.5 (AUTHOR), Buratti, J.5 (AUTHOR), Keren, B.5 (AUTHOR), Ader, F.1,6,7,8 (AUTHOR), Richard, P.1,6,7 (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.2024.07.223 |
