A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies

Autor: Viollet, Louis M., Swoboda, Kathryn J., Mao, Rong, Best, Hunter, Ha, Youna, Toutain, Annick, Guyant-Marechal, Lucie, Laroche-Raynaud, Cecile, Ghorab, Karima, Barthez, Marie Anne, Pedespan, Jean Michel, Hernandorena, Xavier, Lia, Anne-Sophie, Deleuze, Jean-Francois, Masson, Cecile, Nelson, Isabelle, Nectoux, Juliette, Si, Yue
Zdroj: In European Journal of Medical Genetics December 2020 63(12)
Databáze: ScienceDirect
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