A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
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| Auteurs | Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J and Si Y |
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| Année | 2,020 |
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| Institut | JACOB |
| url DOI | 10.1016/j.ejmg.2020.104063 |