Identification and copy number variant analysis of enhancer regions of genes causing spinocerebellar ataxia
Fatemeh Ghorbani, Eddy N. de Boer, Michiel R. Fokkens, Jelkje J. de Boer-Bergsma, Corien C. Verschuuren‐Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen
The paper identifies enhancer regions of SCA genes in human cerebellum and screens for copy number variants in undiagnosed patients, finding one potential CNV of unknown significance.
International Journal of Molecular Sciences · Oct 18, 2024Peer-reviewedGenetics