Novel genotype–phenotype correlations, differential cerebellar allele‑specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

Journal 2024

URL:  https://link.springer.com/article/10.1007/s00439-024-02644-7

Authors: Sanchez-Flores, Marina / , / Gasch-Navalón, Esther / Cirillo, Davide / Sanchez, Ivelisse / Matilla-Dueñas, Antoni

Research Lines: Personalized Medicine Initiative

Publication: Human Genetics

Place Published: Springer Science and Business Media LLC

Volume: 1432-1203

Keywords: neurogenetics, spinocerebellar ataxia, methylation signatures, genome-phenome relationship, Machine Learning