CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.34 3′UTR variant in KLHL40 causes nemaline myopathy
Autor: | Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G. |
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Zdroj: | In Neuromuscular Disorders October 2021 31 Supplement 1:S60-S60 |
Databáze: | ScienceDirect |
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