LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy
| Autor: | Crespin, Matis, Siquier-Pernet, Karine, Marzin, Pauline, Bole-Feysot, Christine, Malan, Valérie, Nitschké, Patrick, Hully, Marie, Roux, Charles-Joris, Lemoine, Michel, Rio, Marlène, Boddaert, Nathalie, Courtin, Thomas, Cantagrel, Vincent |
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| Zdroj: | In Human Genetics and Genomics Advances 9 January 2025 6(1) |
| Databáze: | ScienceDirect |
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