@article{article, title = {{Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia}}, publisher = {{Elsevier BV}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/235293 }}, year = {{2025}}, month = {{12}}, author = {{Fasham J and Rankin J and Schot R and White SM and Bell KM and Wakeling MN and Mallin LJ and Shah A and de Silva MG and Francis DI and Walsh M et al}}, doi = {{10.1016/j.ajhg.2025.11.011}}, volume = {{113}}, journal = {{The American Journal of Human Genetics}}, issue = {{1}}, pages = {{221-233}}, note = {{Accessed on 2026/01/25}}}