Misdiagnosis by whole exome sequencing in progressive myoclonic ataxia consanguineous families: causes and strategies
YANG Hui, LI Yunlu, YANG Kang, LI Shiju, HE Jin
Journal of Diagnostics Concepts & Practice . 2022, (04): 456 -461 .  DOI: 10.16150/j.1671-2870.2022.04.007