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Piccoli C, Scrima R, D’Aprile A, Chetta M, Cela O, Pacelli C, Ripoli M, D’Andrea G, Margaglione M, Bukvic N, et al. Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C). Genes. 2021; 12(9):1295. https://doi.org/10.3390/genes12091295

Piccoli, Claudia, Rosella Scrima, Annamaria D’Aprile, Massimiliano Chetta, Olga Cela, Consiglia Pacelli, Maria Ripoli, Giovanna D’Andrea, Maurizio Margaglione, Nenad Bukvic, and et al. 2021. "Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C)" Genes 12, no. 9: 1295. https://doi.org/10.3390/genes12091295

Piccoli, C., Scrima, R., D’Aprile, A., Chetta, M., Cela, O., Pacelli, C., Ripoli, M., D’Andrea, G., Margaglione, M., Bukvic, N., & Capitanio, N. (2021). Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C). Genes, 12(9), 1295. https://doi.org/10.3390/genes12091295