Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

by biblioteca on 3 de juliol de 2023 with No hi ha comentaris

Justel, M., Jou, C., Sariego-Jamardo, A., Juliá-Palacios, N. A., Ortez, C., Poch, M. L., . . . Olivella, M., … Natera-de Benito, D. (2023). Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2022-109132