Associated Papers
Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.
Wang T et al.
Pediatric Neurology, 2026
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
Monnens Y et al.
Jci Insight, 2024
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
Kim MJ et al.
Journal of Clinical Medicine, 2020
Identification of potential causal variants for premature ovarian failure by whole exome sequencing.
Jin H et al.
Bmc Medical Genomics, 2020
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