The First Genetically Confirmed Case of Ataxia with Oculomotor Apraxia Type 1 (AOA1) Due to an APTX Nonsense Variant in a Rwandan Patient: A Case Report.

Mugaragu, H. U., Muhizi, C., Kayumba, P. R., Horanimpundu, A. U., Uwibambe, E., Nsanzabaganwa, C., ... & Mutesa, L