Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome

Autor: Leung, Marco L., Woodhull, Whitney, Uggenti, Carolina, Schord, Shauna, Mato, Raul Perez, Rodriguez, Diana P., Ream, Margie, Crow, Yanick J., Mori, Mari
Zdroj: In European Journal of Medical Genetics April 2023 66(4)
Databáze: ScienceDirect